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Search term TP53 BRCA2 NOTCH1 returned results from Exome Somatic dbGENVOC section.



OSCC_GB: Gingivo-buccal oral squamous cell carcinoma

DBIDGene nameEntrez IdDiseaseChromStartEndGenome changeUCSC BrowsercDNA changeCodon changeProtein changeVariant classVariant typeReferrence AlleleTumor AlleledbSNP IDSample idAnnotation transcriptTranscript strandTranscript exonTranscript positionReference
esm13216BRCA2675OSCC_GBchr133291062632910626g.chr13:32910626C>Tchr13:32910626-32910626c.2134C>Tc.(2134-2136)Ctg>Ttgp.L712LSilentSNPCT-NIBMG-C761-GBENST00000380152.3+112367NIBMG
esm13217BRCA2675OSCC_GBchr133294455732944557g.chr13:32944557C>Tchr13:32944557-32944557c.8350C>Tc.(8350-8352)Cgg>Tggp.R2784WMissense_MutationSNPCTrs80359075NIBMG-C761-GBENST00000380152.3+198583NIBMG
esm10715NOTCH14851OSCC_GBchr9139396524139396524g.chr9:139396524delAchr9:139396524-139396524c.5401delTc.(5401-5403)tcafsp.S1801fsFrame_Shift_DelDELA--NIBMG-X635-GBENST00000277541.6-295476NIBMG
esm12174NOTCH14851OSCC_GBchr9139399504139399504g.chr9:139399504G>Achr9:139399504-139399504c.4639C>Tc.(4639-4641)Cag>Tagp.Q1547*Nonsense_MutationSNPGA-NIBMG-O481-GBENST00000277541.6-264714NIBMG
esm12622NOTCH14851OSCC_GBchr9139412297139412297g.chr9:139412297C>Tchr9:139412297-139412297c.1348G>Ac.(1348-1350)Gag>Aagp.E450KMissense_MutationSNPCT-NIBMG-D489-GBENST00000277541.6-81423NIBMG
esm14426NOTCH14851OSCC_GBchr9139412744139412744g.chr9:139412744C>Gchr9:139412744-139412744c.1100G>Cc.(1099-1101)gGt>gCtp.G367ASplice_SiteSNPCG-NIBMG-U579-GBENST00000277541.6-71175NIBMG
esm15187NOTCH14851OSCC_GBchr9139401760139401760g.chr9:139401760G>Achr9:139401760-139401760c.3640C>Tc.(3640-3642)Cag>Tagp.Q1214*Nonsense_MutationSNPGA-NIBMG-C277-GBENST00000277541.6-223715NIBMG
esm15353NOTCH14851OSCC_GBchr9139393696139393696g.chr9:139393696G>Achr9:139393696-139393696c.5950C>Tc.(5950-5952)Cga>Tgap.R1984*Nonsense_MutationSNPGA-NIBMG-I523-GBENST00000277541.6-326025NIBMG
esm15520NOTCH14851OSCC_GBchr9139438549139438549g.chr9:139438549G>Achr9:139438549-139438549c.67C>Tc.(67-69)Cga>Tgap.R23*Nonsense_MutationSNPGA-NIBMG-Q441-GBENST00000277541.6-2142NIBMG
esm16789NOTCH14851OSCC_GBchr9139409053139409053g.chr9:139409053C>Achr9:139409053-139409053c.2116G>Tc.(2116-2118)Gag>Tagp.E706*Nonsense_MutationSNPCArs368494947NIBMG-V963-GBENST00000277541.6-132191NIBMG
esm17506NOTCH14851OSCC_GBchr9139412330139412330g.chr9:139412330G>Achr9:139412330-139412330c.1315C>Tc.(1315-1317)Cag>Tagp.Q439*Nonsense_MutationSNPGA-NIBMG-G378-GBENST00000277541.6-81390NIBMG
esm18437NOTCH14851OSCC_GBchr9139393636139393636g.chr9:139393636G>Achr9:139393636-139393636c.6010C>Tc.(6010-6012)Cgc>Tgcp.R2004CMissense_MutationSNPGA-NIBMG-M411-GBENST00000277541.6-326085NIBMG
esm18603NOTCH14851OSCC_GBchr9139407931139407931g.chr9:139407931C>Tchr9:139407931-139407931c.2266G>Ac.(2266-2268)Gag>Aagp.E756KMissense_MutationSNPCTrs587778559NIBMG-P453-GBENST00000277541.6-142341NIBMG
esm9358TP537157OSCC_GBchr1775782057578205g.chr17:7578205C>Achr17:7578205-7578205c.644G>Tc.(643-645)aGt>aTtp.S215IMissense_MutationSNPCArs587782177NIBMG-F316-GBENST00000269305.4-6833NIBMG
esm9576TP537157OSCC_GBchr1775782607578260g.chr17:7578260C>Tchr17:7578260-7578260c.589G>Ac.(589-591)Gtg>Atgp.V197MMissense_MutationSNPCT-NIBMG-V479-GBENST00000269305.4-6778NIBMG
esm10003TP537157OSCC_GBchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574NIBMG-S010-GBENST00000269305.4-81033NIBMG
esm10119TP537157OSCC_GBchr1775775587577558g.chr17:7577558delGchr17:7577558-7577558c.723delCc.(721-723)tccfsp.S241fsFrame_Shift_DelDELG-rs397516437NIBMG-S985-GBENST00000269305.4-7912NIBMG
esm10309TP537157OSCC_GBchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGA-NIBMG-X734-GBENST00000269305.4-101213NIBMG
esm10589TP537157OSCC_GBchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435NIBMG-D806-GBENST00000269305.4-6775NIBMG
esm10904TP537157OSCC_GBchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652NIBMG-C253-GBENST00000269305.4-7932NIBMG
esm11318TP537157OSCC_GBchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574NIBMG-N017-GBENST00000269305.4-81033NIBMG
esm11413TP537157OSCC_GBchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574NIBMG-U837-GBENST00000269305.4-81033NIBMG
esm11502TP537157OSCC_GBchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435NIBMG-W253-GBENST00000269305.4-6775NIBMG
esm11554TP537157OSCC_GBchr1775784577578457g.chr17:7578457C>Tchr17:7578457-7578457c.473G>Ac.(472-474)cGc>cAcp.R158HMissense_MutationSNPCTrs587782144NIBMG-Y005-GBENST00000269305.4-5662NIBMG
esm11945TP537157OSCC_GBchr1775771447577146g.chr17:7577144_7577146delAGTchr17:7577144-7577146c.792_794delACTc.(790-795)ctactg>ctgp.264_265LL>LIn_Frame_DelDELAGT--NIBMG-O651-GBENST00000269305.4-8981_983NIBMG
esm12120TP537157OSCC_GBchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343NIBMG-O481-GBENST00000269305.4-81006NIBMG
esm12223TP537157OSCC_GBchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343NIBMG-J830-GBENST00000269305.4-81006NIBMG
esm12497TP537157OSCC_GBchr1775770857577086g.chr17:7577085_7577086insTGTGCGCCGchr17:7577085-7577086c.852_853insCGGCGCACAc.(850-855)acagag>acaCGGCGCACAp.283_284insTRRIn_Frame_InsINS-TGTGCGCCGrs112431538NIBMG-D711-GBENST00000269305.4-81041_1042NIBMG
esm12533TP537157OSCC_GBchr1775770937577093g.chr17:7577093C>Tchr17:7577093-7577093c.845G>Ac.(844-846)cGg>cAgp.R282QMissense_MutationSNPCT-NIBMG-P838-GBENST00000269305.4-81034NIBMG
esm12534TP537157OSCC_GBchr1775783897578389g.chr17:7578389G>Achr17:7578389-7578389c.541C>Tc.(541-543)Cgc>Tgcp.R181CMissense_MutationSNPGArs587782596NIBMG-P838-GBENST00000269305.4-5730NIBMG
esm12594TP537157OSCC_GBchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGA-NIBMG-D489-GBENST00000269305.4-101213NIBMG
esm12670TP537157OSCC_GBchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578NIBMG-Q595-GBENST00000269305.4-5713NIBMG
esm12823TP537157OSCC_GBchr1775782477578247g.chr17:7578247delAchr17:7578247-7578247c.602delTc.(601-603)ttgfsp.L201fsFrame_Shift_DelDELA--NIBMG-M832-GBENST00000269305.4-6791NIBMG
esm13410TP537157OSCC_GBchr1775740267574026g.chr17:7574026C>Achr17:7574026-7574026c.1001G>Tc.(1000-1002)gGg>gTgp.G334VMissense_MutationSNPCA-NIBMG-C761-GBENST00000269305.4-101190NIBMG
esm13411TP537157OSCC_GBchr1775775597577559g.chr17:7577559G>Tchr17:7577559-7577559c.722C>Ac.(721-723)tCc>tAcp.S241YMissense_MutationSNPGTrs397516437|rs28934573NIBMG-C761-GBENST00000269305.4-7911NIBMG
esm14182TP537157OSCC_GBchr1775770827577082g.chr17:7577082C>Tchr17:7577082-7577082c.856G>Ac.(856-858)Gaa>Aaap.E286KMissense_MutationSNPCT-NIBMG-A543-GBENST00000269305.4-81045NIBMG
esm14288TP537157OSCC_GBchr1775793777579381g.chr17:7579377_7579381delGGTAGchr17:7579377-7579381c.306_310delCTACCc.(304-312)acctaccagfsp.YQ103fsFrame_Shift_DelDELGGTAG--NIBMG-K586-GBENST00000269305.4-4495_499NIBMG
esm14316TP537157OSCC_GBchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574NIBMG-I085-GBENST00000269305.4-81033NIBMG
esm14317TP537157OSCC_GBchr1775775657577565g.chr17:7577565T>Cchr17:7577565-7577565c.716A>Gc.(715-717)aAc>aGcp.N239SMissense_MutationSNPTC-NIBMG-I085-GBENST00000269305.4-7905NIBMG
esm14519TP537157OSCC_GBchr1775784617578461g.chr17:7578461C>Achr17:7578461-7578461c.469G>Tc.(469-471)Gtc>Ttcp.V157FMissense_MutationSNPCArs121912654NIBMG-H417-GBENST00000269305.4-5658NIBMG
esm14676TP537157OSCC_GBchr1775795287579528g.chr17:7579528C>Tchr17:7579528-7579528c.159G>Ac.(157-159)tgG>tgAp.W53*Nonsense_MutationSNPCT-NIBMG-S975-GBENST00000269305.4-4348NIBMG
esm14831TP537157OSCC_GBchr1775770927577092g.chr17:7577092delCchr17:7577092-7577092c.846delGc.(844-846)cggfsp.R283fsFrame_Shift_DelDELC--NIBMG-R677-GBENST00000269305.4-81035NIBMG
esm14900TP537157OSCC_GBchr1775771567577156g.chr17:7577156C>Tchr17:7577156-7577156---Splice_SiteSNPCT-NIBMG-H721-GBENST00000269305.4-8972NIBMG
esm15017TP537157OSCC_GBchr1775781907578190g.chr17:7578190T>Cchr17:7578190-7578190c.659A>Gc.(658-660)tAt>tGtp.Y220CMissense_MutationSNPTCrs121912666NIBMG-X817-GBENST00000269305.4-6848NIBMG
esm15075TP537157OSCC_GBchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343NIBMG-D014-GBENST00000269305.4-81006NIBMG
esm15163TP537157OSCC_GBchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435NIBMG-C277-GBENST00000269305.4-6775NIBMG
esm15213TP537157OSCC_GBchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652NIBMG-A836-GBENST00000269305.4-7932NIBMG
esm15364TP537157OSCC_GBchr1775784927578493g.chr17:7578492_7578493insCAchr17:7578492-7578493c.437_438insTGc.(436-438)tggfsp.W146fsFrame_Shift_InsINS-CA-NIBMG-I523-GBENST00000269305.4-5626_627NIBMG
esm15463TP537157OSCC_GBchr1775775437577543g.chr17:7577543C>Tchr17:7577543-7577543c.738G>Ac.(736-738)atG>atAp.M246IMissense_MutationSNPCTrs397516437NIBMG-Q441-GBENST00000269305.4-7927NIBMG
esm15546TP537157OSCC_GBchr1775781927578192g.chr17:7578192delGchr17:7578192-7578192c.657delCc.(655-657)cccfsp.P219fsFrame_Shift_DelDELG--NIBMG-Z209-GBENST00000269305.4-6846NIBMG
esm15604TP537157OSCC_GBchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578NIBMG-C151-GBENST00000269305.4-5713NIBMG
esm15677TP537157OSCC_GBchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574NIBMG-K046-GBENST00000269305.4-81033NIBMG
esm15733TP537157OSCC_GBchr1775785537578553g.chr17:7578553T>Cchr17:7578553-7578553c.377A>Gc.(376-378)tAc>tGcp.Y126CSplice_SiteSNPTC-NIBMG-V930-GBENST00000269305.4-5566NIBMG
esm15788TP537157OSCC_GBchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652NIBMG-N917-GBENST00000269305.4-7932NIBMG
esm15860TP537157OSCC_GBchr1775775867577586g.chr17:7577586A>Cchr17:7577586-7577586c.695T>Gc.(694-696)aTc>aGcp.I232SMissense_MutationSNPACrs587781589NIBMG-S501-GBENST00000269305.4-7884NIBMG
esm16002TP537157OSCC_GBchr1775770997577099g.chr17:7577099C>Gchr17:7577099-7577099c.839G>Cc.(838-840)aGa>aCap.R280TMissense_MutationSNPCGrs121912660NIBMG-U346-GBENST00000269305.4-81028NIBMG
esm16178TP537157OSCC_GBchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578NIBMG-J817-GBENST00000269305.4-5713NIBMG
esm16179TP537157OSCC_GBchr1775785187578518g.chr17:7578518C>Tchr17:7578518-7578518c.412G>Ac.(412-414)Gcc>Accp.A138TMissense_MutationSNPCTrs28934875NIBMG-J817-GBENST00000269305.4-5601NIBMG
esm16569TP537157OSCC_GBchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651NIBMG-Z994-GBENST00000269305.4-7931NIBMG
esm16627TP537157OSCC_GBchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGA-NIBMG-Z326-GBENST00000269305.4-6763NIBMG
esm16729TP537157OSCC_GBchr1775785507578550g.chr17:7578550G>Tchr17:7578550-7578550c.380C>Ac.(379-381)tCc>tAcp.S127YMissense_MutationSNPGT-NIBMG-V963-GBENST00000269305.4-5569NIBMG
esm16795TP537157OSCC_GBchr1775775647577565g.chr17:7577564_7577565insTchr17:7577564-7577565c.716_717insAc.(715-717)aacfsp.N239fsFrame_Shift_InsINS-T-NIBMG-V963-GBENST00000269305.4-7905_906NIBMG
esm16919TP537157OSCC_GBchr1775784577578457g.chr17:7578457C>Tchr17:7578457-7578457c.473G>Ac.(472-474)cGc>cAcp.R158HMissense_MutationSNPCTrs587782144NIBMG-T138-GBENST00000269305.4-5662NIBMG
esm16977TP537157OSCC_GBchr1775782177578218g.chr17:7578217_7578218insTGTTTCchr17:7578217-7578218c.631_632insGAAACAc.(631-633)act>aGAAACActp.210_211insRNIn_Frame_InsINS-TGTTTC-NIBMG-T138-GBENST00000269305.4-6820_821NIBMG
esm17001TP537157OSCC_GBchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578NIBMG-F730-GBENST00000269305.4-5713NIBMG
esm17002TP537157OSCC_GBchr1775794857579485g.chr17:7579485C>Achr17:7579485-7579485c.202G>Tc.(202-204)Gag>Tagp.E68*Nonsense_MutationSNPCA-NIBMG-F730-GBENST00000269305.4-4391NIBMG
esm17151TP537157OSCC_GBchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651NIBMG-L997-GBENST00000269305.4-7931NIBMG
esm17223TP537157OSCC_GBchr1775794367579436g.chr17:7579436G>Achr17:7579436-7579436c.251C>Tc.(250-252)gCc>gTcp.A84VMissense_MutationSNPGA-NIBMG-T319-GBENST00000269305.4-4440NIBMG
esm17268TP537157OSCC_GBchr1775794207579420g.chr17:7579420delGchr17:7579420-7579420c.267delCc.(265-267)cccfsp.P89fsFrame_Shift_DelDELG-rs587783062NIBMG-T319-GBENST00000269305.4-4456NIBMG
esm17331TP537157OSCC_GBchr1775782227578223g.chr17:7578222_7578223delTCchr17:7578222-7578223c.626_627delGAc.(625-627)agafsp.R209fsFrame_Shift_DelDELTC--NIBMG-E123-GBENST00000269305.4-6815_816NIBMG
esm17359TP537157OSCC_GBchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576NIBMG-C109-GBENST00000269305.4-81007NIBMG
esm17429TP537157OSCC_GBchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652NIBMG-E544-GBENST00000269305.4-7932NIBMG
esm17482TP537157OSCC_GBchr1775785257578525g.chr17:7578525G>Tchr17:7578525-7578525c.405C>Ac.(403-405)tgC>tgAp.C135*Nonsense_MutationSNPGT-NIBMG-G378-GBENST00000269305.4-5594NIBMG
esm17549TP537157OSCC_GBchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343NIBMG-Z979-GBENST00000269305.4-81006NIBMG
esm17651TP537157OSCC_GBchr1775782357578251g.chr17:7578235_7578251delTACTCCACACGCAAATTchr17:7578235-7578251c.598_614delAATTTGCGTGTGGAGTAc.(598-615)aatttgcgtgtggagtatfp.NLRVEY200fsFrame_Shift_DelDELTACTCCACACGCAAATT-rs587778719|rs587780072NIBMG-N671-GBENST00000269305.4-6787_803NIBMG
esm17688TP537157OSCC_GBchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGA-NIBMG-A369-GBENST00000269305.4-101213NIBMG
esm17869TP537157OSCC_GBchr1775784857578485g.chr17:7578485delAchr17:7578485-7578485c.445delTc.(445-447)tccfsp.S149fsFrame_Shift_DelDELA--NIBMG-T190-GBENST00000269305.4-5634NIBMG
esm17911TP537157OSCC_GBchr1775770827577082g.chr17:7577082C>Tchr17:7577082-7577082c.856G>Ac.(856-858)Gaa>Aaap.E286KMissense_MutationSNPCT-NIBMG-F693-GBENST00000269305.4-81045NIBMG
esm18012TP537157OSCC_GBchr1775782537578253g.chr17:7578253C>Achr17:7578253-7578253c.596G>Tc.(595-597)gGa>gTap.G199VMissense_MutationSNPCA-NIBMG-C788-GBENST00000269305.4-6785NIBMG
esm18088TP537157OSCC_GBchr1775775757577575g.chr17:7577575A>Gchr17:7577575-7577575c.706T>Cc.(706-708)Tac>Cacp.Y236HMissense_MutationSNPAGrs587782289NIBMG-W357-GBENST00000269305.4-7895NIBMG
esm18167TP537157OSCC_GBchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652NIBMG-M104-GBENST00000269305.4-7932NIBMG
esm18234TP537157OSCC_GBchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGA-NIBMG-P214-GBENST00000269305.4-101213NIBMG
esm18235TP537157OSCC_GBchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436NIBMG-P214-GBENST00000269305.4-6826NIBMG
esm18311TP537157OSCC_GBchr1775739767573976g.chr17:7573976T>Achr17:7573976-7573976c.1051A>Tc.(1051-1053)Aag>Tagp.K351*Nonsense_MutationSNPTArs141402957NIBMG-K245-GBENST00000269305.4-101240NIBMG
esm18312TP537157OSCC_GBchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGA-NIBMG-K245-GBENST00000269305.4-101213NIBMG
esm18361TP537157OSCC_GBchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578NIBMG-T640-GBENST00000269305.4-5713NIBMG
esm18408TP537157OSCC_GBchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436NIBMG-M411-GBENST00000269305.4-6826NIBMG
esm18555TP537157OSCC_GBchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGA-NIBMG-P453-GBENST00000269305.4-6763NIBMG











Search term TP53 BRCA2 NOTCH1 returned results from TCGA Exome Somatic Variation section.



BM-TCGA: Buccal Mucosa; OC-TCGA: Oral Cavity; OT-TCGA: Oral Tongue

NOTE: Data from Head and Neck Squamous Cell carcinoma project of TCGA (HNSCC-TCGA)

DBIDGene nameEntrez IdDiseaseChromStartEndGenome changeUCSC BrowsercDNA changeCodon changeProtein changeVariant classVariant typeReferrence AlleleTumor AlleledbSNP IDSample IdAnnotation transcriptTranscript strandTranscript exonTranscript positionReference
tcga2778BRCA2675OT-TCGAchr133291330632913306g.chr13:32913306T>Achr13:32913306-32913306c.4814T>Ac.(4813-4815)gTt>gAtp.V1605DMissense_MutationSNPTATCGA-CQ-5325-01A-01DENST00000380152.3+115047TCGA
tcga7681BRCA2675OT-TCGAchr133290743232907432g.chr13:32907432C>Tchr13:32907432-32907432c.1817C>Tc.(1816-1818)cCg>cTgp.P606LMissense_MutationSNPCTrs80358469|rs587779358TCGA-CV-6945-01A-11DENST00000380152.3+102050TCGA
tcga25992BRCA2675BM-TCGAchr133290655032906550g.chr13:32906550T>Gchr13:32906550-32906550c.935T>Gc.(934-936)tTt>tGtp.F312CMissense_MutationSNPTGTCGA-UF-A7JA-01A-12DENST00000380152.3+101168TCGA
tcga28078BRCA2675OC-TCGAchr133291501532915015g.chr13:32915015G>Cchr13:32915015-32915015c.6523G>Cc.(6523-6525)Gag>Cagp.E2175QMissense_MutationSNPGCTCGA-CQ-7071-01A-12DENST00000380152.3+116756TCGA
tcga541NOTCH14851OT-TCGAchr9139412299139412299g.chr9:139412299C>Tchr9:139412299-139412299c.1346G>Ac.(1345-1347)tGc>tAcp.C449YMissense_MutationSNPCTTCGA-BA-4075-01A-01DENST00000277541.6-81421TCGA
tcga689NOTCH14851OT-TCGAchr9139412704139412704g.chr9:139412704delGchr9:139412704-139412704c.1140delCc.(1138-1140)cccfsp.P380fsFrame_Shift_DelDELG-TCGA-BA-6873-01A-11DENST00000277541.6-71215TCGA
tcga979NOTCH14851OT-TCGAchr9139395110139395114g.chr9:139395110_139395114delGCATCchr9:139395110-139395114c.5824_5828delGATGCc.(5824-5829)gatgccfsp.DA1942fsFrame_Shift_DelDELGCATC-TCGA-BA-A6DE-01A-22DENST00000277541.6-315899_5903TCGA
tcga1688NOTCH14851OT-TCGAchr9139412213139412213g.chr9:139412213A>Tchr9:139412213-139412213c.1432T>Ac.(1432-1434)Tgc>Agcp.C478SMissense_MutationSNPATTCGA-CN-4736-01A-01DENST00000277541.6-81507TCGA
tcga1836NOTCH14851OT-TCGAchr9139412381139412381g.chr9:139412381G>Achr9:139412381-139412381c.1264C>Tc.(1264-1266)Ccc>Tccp.P422SMissense_MutationSNPGATCGA-CN-4742-01A-02DENST00000277541.6-81339TCGA
tcga3160NOTCH14851OT-TCGAchr9139393579139393579g.chr9:139393579C>Tchr9:139393579-139393579c.6067G>Ac.(6067-6069)Gcc>Accp.A2023TMissense_MutationSNPCTTCGA-CQ-5329-01A-01DENST00000277541.6-326142TCGA
tcga3490NOTCH14851OT-TCGAchr9139412235139412235g.chr9:139412235C>Tchr9:139412235-139412235c.1410G>Ac.(1408-1410)caG>caAp.Q470QSilentSNPCTTCGA-CQ-5333-01A-01DENST00000277541.6-81485TCGA
tcga3491NOTCH14851OT-TCGAchr9139412278139412278g.chr9:139412278C>Tchr9:139412278-139412278c.1367G>Ac.(1366-1368)tGc>tAcp.C456YMissense_MutationSNPCTTCGA-CQ-5333-01A-01DENST00000277541.6-81442TCGA
tcga3589NOTCH14851OT-TCGAchr9139413084139413084g.chr9:139413084C>Tchr9:139413084-139413084c.1058G>Ac.(1057-1059)cGt>cAtp.R353HMissense_MutationSNPCTTCGA-CQ-6219-01A-11DENST00000277541.6-61133TCGA
tcga4774NOTCH14851OT-TCGAchr9139402771139402771g.chr9:139402771G>Achr9:139402771-139402771c.3238C>Tc.(3238-3240)Cag>Tagp.Q1080*Nonsense_MutationSNPGATCGA-CR-7390-01A-11DENST00000277541.6-203313TCGA
tcga5042NOTCH14851OT-TCGAchr9139395018139395018g.chr9:139395018G>Achr9:139395018-139395018c.5920C>Tc.(5920-5922)Caa>Taap.Q1974*Nonsense_MutationSNPGATCGA-CR-7394-01A-11DENST00000277541.6-315995TCGA
tcga5768NOTCH14851OT-TCGAchr9139413085139413085g.chr9:139413085G>Achr9:139413085-139413085c.1057C>Tc.(1057-1059)Cgt>Tgtp.R353CMissense_MutationSNPGATCGA-CV-5971-01A-11DENST00000277541.6-61132TCGA
tcga5844NOTCH14851OT-TCGAchr9139393696139393696g.chr9:139393696G>Achr9:139393696-139393696c.5950C>Tc.(5950-5952)Cga>Tgap.R1984*Nonsense_MutationSNPGATCGA-CV-5973-01A-11DENST00000277541.6-326025TCGA
tcga9553NOTCH14851OT-TCGAchr9139405210139405210g.chr9:139405210G>Achr9:139405210-139405210c.2635C>Tc.(2635-2637)Cgg>Tggp.R879WMissense_MutationSNPGArs587778563TCGA-CV-6959-01A-11DENST00000277541.6-172710TCGA
tcga9629NOTCH14851OT-TCGAchr9139405210139405210g.chr9:139405210G>Achr9:139405210-139405210c.2635C>Tc.(2635-2637)Cgg>Tggp.R879WMissense_MutationSNPGArs587778563TCGA-CV-6959-01A-11DENST00000277541.6-172710TCGA
tcga11618NOTCH14851OT-TCGAchr9139412252139412252g.chr9:139412252C>Tchr9:139412252-139412252c.1393G>Ac.(1393-1395)Gcc>Accp.A465TMissense_MutationSNPCTTCGA-CV-7236-01A-11DENST00000277541.6-81468TCGA
tcga11806NOTCH14851OT-TCGAchr9139407533139407533g.chr9:139407533G>Achr9:139407533-139407533c.2407C>Tc.(2407-2409)Cag>Tagp.Q803*Nonsense_MutationSNPGATCGA-CV-7238-01A-11DENST00000277541.6-152482TCGA
tcga12001NOTCH14851OT-TCGAchr9139407533139407533g.chr9:139407533G>Achr9:139407533-139407533c.2407C>Tc.(2407-2409)Cag>Tagp.Q803*Nonsense_MutationSNPGATCGA-CV-7238-01A-11DENST00000277541.6-152482TCGA
tcga13708NOTCH14851OT-TCGAchr9139412282139412282g.chr9:139412282C>Tchr9:139412282-139412282c.1363G>Ac.(1363-1365)Gag>Aagp.E455KMissense_MutationSNPCTTCGA-CX-7085-01A-21DENST00000277541.6-81438TCGA
tcga15051NOTCH14851OT-TCGAchr9139413087139413087g.chr9:139413087T>Achr9:139413087-139413087c.1055A>Tc.(1054-1056)gAc>gTcp.D352VMissense_MutationSNPTATCGA-DQ-5625-01A-01DENST00000277541.6-61130TCGA
tcga15268NOTCH14851OT-TCGAchr9139412327139412327g.chr9:139412327A>Gchr9:139412327-139412327c.1318T>Cc.(1318-1320)Tgt>Cgtp.C440RMissense_MutationSNPAGTCGA-DQ-5631-01A-01DENST00000277541.6-81393TCGA
tcga16397NOTCH14851OT-TCGAchr9139400146139400146g.chr9:139400146C>Tchr9:139400146-139400146c.4202G>Ac.(4201-4203)gGg>gAgp.G1401EMissense_MutationSNPCTTCGA-HD-8635-01A-11DENST00000277541.6-254277TCGA
tcga16667NOTCH14851OT-TCGAchr9139400146139400146g.chr9:139400146C>Tchr9:139400146-139400146c.4202G>Ac.(4201-4203)gGg>gAgp.G1401EMissense_MutationSNPCTTCGA-HD-8635-01A-11DENST00000277541.6-254277TCGA
tcga17006NOTCH14851OT-TCGAchr9139402529139402546g.chr9:139402529_139402546delGGTGCGTGTTGCCCGCGTchr9:139402529-139402546c.3371_3388delACGCGGGCAACACGCAc.(3370-3390)gacgcgggcaacacgcap.AGNTHH1125delIn_Frame_DelDELGGTGCGTGTTGCCCGCGTTGTGrs200871631|rs530959956|rs200608278TCGA-IQ-A61E-01A-22DENST00000277541.6-213446_3463TCGA
tcga17925NOTCH14851OT-TCGAchr9139410452139410452g.chr9:139410452G>Tchr9:139410452-139410452c.1650C>Ac.(1648-1650)taC>taAp.Y550*Nonsense_MutationSNPGTrs371634784TCGA-MT-A67A-01A-11DENST00000277541.6-101725TCGA
tcga18074NOTCH14851OT-TCGAchr9139409770139409770g.chr9:139409770G>Cchr9:139409770-139409770c.1986C>Gc.(1984-1986)taC>taGp.Y662*Nonsense_MutationSNPGCTCGA-QK-A652-01A-11DENST00000277541.6-122061TCGA
tcga18199NOTCH14851OT-TCGAchr9139412252139412252g.chr9:139412252C>Tchr9:139412252-139412252c.1393G>Ac.(1393-1395)Gcc>Accp.A465TMissense_MutationSNPCTTCGA-QK-AA3K-01A-11DENST00000277541.6-81468TCGA
tcga20133NOTCH14851BM-TCGAchr9139402562139402562g.chr9:139402562C>Achr9:139402562-139402562c.3355G>Tc.(3355-3357)Gga>Tgap.G1119*Nonsense_MutationSNPCATCGA-CQ-5334-01A-01DENST00000277541.6-213430TCGA
tcga20546NOTCH14851BM-TCGAchr9139412282139412282g.chr9:139412282C>Tchr9:139412282-139412282c.1363G>Ac.(1363-1365)Gag>Aagp.E455KMissense_MutationSNPCTTCGA-CQ-A4C6-01A-11DENST00000277541.6-81438TCGA
tcga20936NOTCH14851BM-TCGAchr9139397641139397641g.chr9:139397641G>Achr9:139397641-139397641c.5160C>Tc.(5158-5160)gcC>gcTp.A1720ASilentSNPGATCGA-CV-6940-01A-11DENST00000277541.6-275235TCGA
tcga21096NOTCH14851BM-TCGAchr9139413161139413161g.chr9:139413161C>Gchr9:139413161-139413161c.981G>Cc.(979-981)tgG>tgCp.W327CMissense_MutationSNPCGTCGA-D6-A6EN-01A-11DENST00000277541.6-61056TCGA
tcga25052NOTCH14851BM-TCGAchr9139395187139395187g.chr9:139395187G>Achr9:139395187-139395187c.5751C>Tc.(5749-5751)ggC>ggTp.G1917GSilentSNPGATCGA-F7-A624-01A-22DENST00000277541.6-315826TCGA
tcga27263NOTCH14851OC-TCGAchr9139402755139402755g.chr9:139402755C>Tchr9:139402755-139402755c.3254G>Ac.(3253-3255)tGc>tAcp.C1085YMissense_MutationSNPCTTCGA-CN-4729-01A-01DENST00000277541.6-203329TCGA
tcga27926NOTCH14851OC-TCGAchr9139418373139418373g.chr9:139418373G>Tchr9:139418373-139418373c.199C>Ac.(199-201)Ccc>Accp.P67TMissense_MutationSNPGTTCGA-CN-6994-01A-11DENST00000277541.6-3274TCGA
tcga28503NOTCH14851OC-TCGAchr9139412344139412344g.chr9:139412344C>Achr9:139412344-139412344c.1301G>Tc.(1300-1302)gGc>gTcp.G434VMissense_MutationSNPCATCGA-CQ-7071-01A-12DENST00000277541.6-81376TCGA
tcga28504NOTCH14851OC-TCGAchr9139413130139413130g.chr9:139413130C>Tchr9:139413130-139413130c.1012G>Ac.(1012-1014)Gac>Aacp.D338NMissense_MutationSNPCTTCGA-CQ-7071-01A-12DENST00000277541.6-61087TCGA
tcga29452NOTCH14851OC-TCGAchr9139400138139400138g.chr9:139400138C>Tchr9:139400138-139400138c.4210G>Ac.(4210-4212)Gag>Aagp.E1404KMissense_MutationSNPCTTCGA-CR-7365-01A-11DENST00000277541.6-254285TCGA
tcga29453NOTCH14851OC-TCGAchr9139410477139410477g.chr9:139410477delTchr9:139410477-139410477c.1625delAc.(1624-1626)aagfsp.K542fsFrame_Shift_DelDELT-rs369635394TCGA-CR-7365-01A-11DENST00000277541.6-101700TCGA
tcga30260NOTCH14851OC-TCGAchr9139411828139411828g.chr9:139411828C>Achr9:139411828-139411828c.1451G>Tc.(1450-1452)gGt>gTtp.G484VMissense_MutationSNPCATCGA-CR-7376-01A-11DENST00000277541.6-91526TCGA
tcga30412NOTCH14851OC-TCGAchr9139392011139392011g.chr9:139392011C>Tchr9:139392011-139392011-Splice_SiteSNPCTTCGA-CR-7377-01A-11DENST00000277541.6-346256TCGA
tcga30413NOTCH14851OC-TCGAchr9139400000139400000g.chr9:139400000C>Achr9:139400000-139400000c.4348G>Tc.(4348-4350)Gag>Tagp.E1450*Nonsense_MutationSNPCArs147841035TCGA-CR-7377-01A-11DENST00000277541.6-254423TCGA
tcga30595NOTCH14851OC-TCGAchr9139396213139396213g.chr9:139396213A>Tchr9:139396213-139396213c.5625T>Ac.(5623-5625)aaT>aaAp.N1875KMissense_MutationSNPATTCGA-CR-7379-01A-11DENST00000277541.6-305700TCGA
tcga30731NOTCH14851OC-TCGAchr9139405168139405168g.chr9:139405168A>Tchr9:139405168-139405168c.2677T>Ac.(2677-2679)Tgc>Agcp.C893SMissense_MutationSNPATTCGA-CR-7380-01A-11DENST00000277541.6-172752TCGA
tcga31179NOTCH14851OC-TCGAchr9139392000139392000g.chr9:139392000G>Achr9:139392000-139392000c.6191C>Tc.(6190-6192)cCc>cTcp.P2064LMissense_MutationSNPGATCGA-CR-7395-01A-11DENST00000277541.6-346266TCGA
tcga31327NOTCH14851OC-TCGAchr9139409935139409936g.chr9:139409935_139409936insTGchr9:139409935-139409936c.1902_1903insCAc.(1900-1905)acagga>acaCAggap.G635fsSplice_SiteINS-TGTCGA-CV-5966-01A-11DENST00000277541.6-111977_1978TCGA
tcga31471NOTCH14851OC-TCGAchr9139409935139409936g.chr9:139409935_139409936insTGchr9:139409935-139409936c.1902_1903insCAc.(1900-1905)acagga>acaCAggap.G635fsSplice_SiteINS-TGTCGA-CV-5966-01A-11DENST00000277541.6-111977_1978TCGA
tcga31852NOTCH14851OC-TCGAchr9139402475139402475g.chr9:139402475delCchr9:139402475-139402475c.3442delGc.(3442-3444)gagfsp.E1148fsFrame_Shift_DelDELC-TCGA-CV-6938-01A-11DENST00000277541.6-213517TCGA
tcga32024NOTCH14851OC-TCGAchr9139402475139402475g.chr9:139402475delCchr9:139402475-139402475c.3442delGc.(3442-3444)gagfsp.E1148fsFrame_Shift_DelDELC-TCGA-CV-6938-01A-11DENST00000277541.6-213517TCGA
tcga32298NOTCH14851OC-TCGAchr9139409118139409118g.chr9:139409118delCchr9:139409118-139409118c.2051delGc.(2050-2052)ggcfsp.G684fsFrame_Shift_DelDELC-TCGA-CV-6942-01A-21DENST00000277541.6-132126TCGA
tcga32453NOTCH14851OC-TCGAchr9139399790139399790g.chr9:139399790C>Gchr9:139399790-139399790c.4558G>Cc.(4558-4560)Gac>Cacp.D1520HMissense_MutationSNPCGTCGA-CV-6955-01A-11DENST00000277541.6-254633TCGA
tcga32454NOTCH14851OC-TCGAchr9139412284139412284g.chr9:139412284T>Gchr9:139412284-139412284c.1361A>Cc.(1360-1362)aAc>aCcp.N454TMissense_MutationSNPTGTCGA-CV-6955-01A-11DENST00000277541.6-81436TCGA
tcga32455NOTCH14851OC-TCGAchr9139418203139418204g.chr9:139418203_139418204insTchr9:139418203-139418204c.368_369insAc.(367-369)acgfsp.T123fsFrame_Shift_InsINS-Trs187473846TCGA-CV-6955-01A-11DENST00000277541.6-3443_444TCGA
tcga32551NOTCH14851OC-TCGAchr9139399790139399790g.chr9:139399790C>Gchr9:139399790-139399790c.4558G>Cc.(4558-4560)Gac>Cacp.D1520HMissense_MutationSNPCGTCGA-CV-6955-01A-11DENST00000277541.6-254633TCGA
tcga32552NOTCH14851OC-TCGAchr9139412284139412284g.chr9:139412284T>Gchr9:139412284-139412284c.1361A>Cc.(1360-1362)aAc>aCcp.N454TMissense_MutationSNPTGTCGA-CV-6955-01A-11DENST00000277541.6-81436TCGA
tcga32553NOTCH14851OC-TCGAchr9139418203139418204g.chr9:139418203_139418204insTchr9:139418203-139418204c.368_369insAc.(367-369)acgfsp.T123fsFrame_Shift_InsINS-Trs187473846TCGA-CV-6955-01A-11DENST00000277541.6-3443_444TCGA
tcga34772NOTCH14851OC-TCGAchr9139401042139401042g.chr9:139401042C>Gchr9:139401042-139401042c.3951G>Cc.(3949-3951)aaG>aaCp.K1317NMissense_MutationSNPCGTCGA-CV-7099-01A-41DENST00000277541.6-244026TCGA
tcga37063NOTCH14851OC-TCGAchr9139401394139401394g.chr9:139401394G>Tchr9:139401394-139401394c.3675C>Ac.(3673-3675)tgC>tgAp.C1225*Nonsense_MutationSNPGTTCGA-CV-7411-01A-11DENST00000277541.6-233750TCGA
tcga38713NOTCH14851OC-TCGAchr9139402742139402742g.chr9:139402742C>Tchr9:139402742-139402742c.3267G>Ac.(3265-3267)tgG>tgAp.W1089*Nonsense_MutationSNPCTTCGA-CV-7427-01A-11DENST00000277541.6-203342TCGA
tcga42548NOTCH14851OC-TCGAchr9139411742139411742g.chr9:139411742G>Achr9:139411742-139411742c.1537C>Tc.(1537-1539)Cag>Tagp.Q513*Nonsense_MutationSNPGATCGA-CV-7568-01A-11DENST00000277541.6-91612TCGA
tcga43607NOTCH14851OC-TCGAchr9139404216139404216g.chr9:139404216A>Cchr9:139404216-139404216c.2938T>Gc.(2938-2940)Tgt>Ggtp.C980GMissense_MutationSNPACTCGA-CV-A45V-01A-21DENST00000277541.6-183013TCGA
tcga44004NOTCH14851OC-TCGAchr9139413171139413171g.chr9:139413171A>Tchr9:139413171-139413171c.971T>Ac.(970-972)gTc>gAcp.V324DMissense_MutationSNPATTCGA-CV-A6JY-01A-11DENST00000277541.6-61046TCGA
tcga45633NOTCH14851OC-TCGAchr9139412375139412375g.chr9:139412375C>Tchr9:139412375-139412375c.1270G>Ac.(1270-1272)Gag>Aagp.E424KMissense_MutationSNPCTTCGA-HD-A6I0-01A-11DENST00000277541.6-81345TCGA
tcga55TP537157OT-TCGAchr1775740007574000g.chr17:7574000C>Achr17:7574000-7574000c.1027G>Tc.(1027-1029)Gag>Tagp.E343*Nonsense_MutationSNPCArs375573770TCGA-4P-AA8J-01A-11DENST00000269305.4-101216TCGA
tcga56TP537157OT-TCGAchr1775769047576904g.chr17:7576904G>Achr17:7576904-7576904c.942C>Tc.(940-942)tcC>tcTp.S314SSilentSNPGATCGA-4P-AA8J-01A-11DENST00000269305.4-91131TCGA
tcga220TP537157OT-TCGAchr1775775077577507g.chr17:7577507T>Achr17:7577507-7577507c.774A>Tc.(772-774)gaA>gaTp.E258DMissense_MutationSNPTATCGA-BA-4074-01A-01DENST00000269305.4-7963TCGA
tcga405TP537157OT-TCGAchr1775770177577017g.chr17:7577017A>Cchr17:7577017-7577017-Splice_SiteSNPACTCGA-BA-4075-01A-01DENST00000269305.4-81109TCGA
tcga569TP537157OT-TCGAchr1775782477578247g.chr17:7578247A>Tchr17:7578247-7578247c.602T>Ac.(601-603)tTg>tAgp.L201*Nonsense_MutationSNPATTCGA-BA-5557-01A-01DENST00000269305.4-6791TCGA
tcga631TP537157OT-TCGAchr1775782717578271g.chr17:7578271T>Achr17:7578271-7578271c.578A>Tc.(577-579)cAt>cTtp.H193LMissense_MutationSNPTATCGA-BA-6873-01A-11DENST00000269305.4-6767TCGA
tcga632TP537157OT-TCGAchr1775783847578401g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGGchr17:7578384-7578401c.529_546delCCCCACCATGAGCGCTGCc.(529-546)ccccaccatgagcgctgcdp.PHHERC177delIn_Frame_DelDELGCAGCGCTCATGGTGGGG-rs147002414|rs587782596|rs587780070|rs397514495TCGA-BA-6873-01A-11DENST00000269305.4-5718_735TCGA
tcga717TP537157OT-TCGAchr1775781807578181g.chr17:7578180_7578181insTchr17:7578180-7578181c.668_669insAc.(667-669)cctfsp.P223fsFrame_Shift_InsINS-Trs138983188TCGA-BA-7269-01A-11DENST00000269305.4-6857_858TCGA
tcga813TP537157OT-TCGAchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343TCGA-BA-A6DB-01A-11DENST00000269305.4-81006TCGA
tcga881TP537157OT-TCGAchr1775784137578413g.chr17:7578413C>Tchr17:7578413-7578413c.517G>Ac.(517-519)Gtg>Atgp.V173MMissense_MutationSNPCTTCGA-BA-A6DE-01A-22DENST00000269305.4-5706TCGA
tcga995TP537157OT-TCGAchr1775771007577100g.chr17:7577100T>Cchr17:7577100-7577100c.838A>Gc.(838-840)Aga>Ggap.R280GMissense_MutationSNPTCTCGA-BA-A6DG-01A-21DENST00000269305.4-81027TCGA
tcga996TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-BA-A6DG-01A-21DENST00000269305.4-6775TCGA
tcga1063TP537157OT-TCGAchr1775781927578193g.chr17:7578192_7578193delGGchr17:7578192-7578193c.656_657delCCc.(655-657)cccfsp.P219fsFrame_Shift_DelDELGG-TCGA-BB-4224-01A-01DENST00000269305.4-6845_846TCGA
tcga1064TP537157OT-TCGAchr1775785007578500g.chr17:7578500G>Achr17:7578500-7578500c.430C>Tc.(430-432)Cag>Tagp.Q144*Nonsense_MutationSNPGATCGA-BB-4224-01A-01DENST00000269305.4-5619TCGA
tcga1176TP537157OT-TCGAchr1775770177577017g.chr17:7577017A>Cchr17:7577017-7577017-Splice_SiteSNPACTCGA-BB-A6UO-01A-12DENST00000269305.4-81109TCGA
tcga1318TP537157OT-TCGAchr1775782657578265g.chr17:7578265A>Gchr17:7578265-7578265c.584T>Cc.(583-585)aTc>aCcp.I195TMissense_MutationSNPAGTCGA-C9-A47Z-01A-11DENST00000269305.4-6773TCGA
tcga1319TP537157OT-TCGAchr1775793797579380g.chr17:7579379_7579380insAchr17:7579379-7579380c.307_308insTc.(307-309)tacfsp.Y103fsFrame_Shift_InsINS-ATCGA-C9-A47Z-01A-11DENST00000269305.4-4496_497TCGA
tcga1432TP537157OT-TCGAchr1775775477577547g.chr17:7577547C>Tchr17:7577547-7577547c.734G>Ac.(733-735)gGc>gAcp.G245DMissense_MutationSNPCTrs121912656|rs397516437TCGA-C9-A480-01A-12DENST00000269305.4-7923TCGA
tcga1506TP537157OT-TCGAchr1775740177574017g.chr17:7574017C>Achr17:7574017-7574017c.1010G>Tc.(1009-1011)cGc>cTcp.R337LMissense_MutationSNPCArs121912664TCGA-CN-4725-01A-01DENST00000269305.4-101199TCGA
tcga1507TP537157OT-TCGAchr1775771147577114g.chr17:7577114C>Achr17:7577114-7577114c.824G>Tc.(823-825)tGt>tTtp.C275FMissense_MutationSNPCATCGA-CN-4725-01A-01DENST00000269305.4-81013TCGA
tcga1565TP537157OT-TCGAchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576TCGA-CN-4733-01A-02DENST00000269305.4-81007TCGA
tcga1622TP537157OT-TCGAchr1775782717578271g.chr17:7578271T>Gchr17:7578271-7578271c.578A>Cc.(577-579)cAt>cCtp.H193PMissense_MutationSNPTGTCGA-CN-4736-01A-01DENST00000269305.4-6767TCGA
tcga1623TP537157OT-TCGAchr1775783957578395g.chr17:7578395G>Achr17:7578395-7578395c.535C>Tc.(535-537)Cat>Tatp.H179YMissense_MutationSNPGArs587780070TCGA-CN-4736-01A-01DENST00000269305.4-5724TCGA
tcga1718TP537157OT-TCGAchr1775784277578427g.chr17:7578427T>Achr17:7578427-7578427c.503A>Tc.(502-504)cAc>cTcp.H168LMissense_MutationSNPTATCGA-CN-4737-01A-01DENST00000269305.4-5692TCGA
tcga1782TP537157OT-TCGAchr1775770587577058g.chr17:7577058C>Achr17:7577058-7577058c.880G>Tc.(880-882)Gag>Tagp.E294*Nonsense_MutationSNPCATCGA-CN-4742-01A-02DENST00000269305.4-81069TCGA
tcga1887TP537157OT-TCGAchr1775771217577121g.chr17:7577121G>Achr17:7577121-7577121c.817C>Tc.(817-819)Cgt>Tgtp.R273CMissense_MutationSNPGArs121913343TCGA-CN-5367-01A-01DENST00000269305.4-81006TCGA
tcga1888TP537157OT-TCGAchr1775784497578449g.chr17:7578449C>Tchr17:7578449-7578449c.481G>Ac.(481-483)Gcc>Accp.A161TMissense_MutationSNPCTrs193920817TCGA-CN-5367-01A-01DENST00000269305.4-5670TCGA
tcga2024TP537157OT-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-CN-5370-01A-01DENST00000269305.4-5713TCGA
tcga2025TP537157OT-TCGAchr1775785557578555g.chr17:7578555C>Tchr17:7578555-7578555-Splice_SiteSNPCTTCGA-CN-5370-01A-01DENST00000269305.4-5565TCGA
tcga2158TP537157OT-TCGAchr1775740347574034g.chr17:7574034C>Achr17:7574034-7574034-Splice_SiteSNPCArs587782272TCGA-CN-6019-01A-11DENST00000269305.4-101183TCGA
tcga2344TP537157OT-TCGAchr1775771447577144g.chr17:7577144A>Cchr17:7577144-7577144c.794T>Gc.(793-795)cTg>cGgp.L265RMissense_MutationSNPACTCGA-CN-6024-01A-11DENST00000269305.4-8983TCGA
tcga2514TP537157OT-TCGAchr1775775687577568g.chr17:7577568C>Achr17:7577568-7577568c.713G>Tc.(712-714)tGt>tTtp.C238FMissense_MutationSNPCATCGA-CN-6996-01A-11DENST00000269305.4-7902TCGA
tcga2596TP537157OT-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-CN-6998-01A-23DENST00000269305.4-81105TCGA
tcga2706TP537157OT-TCGAchr1775784617578462g.chr17:7578461_7578462delCGchr17:7578461-7578462c.468_469delCGc.(466-471)cgcgtcfsp.V157fsFrame_Shift_DelDELCG-rs121912654TCGA-CN-A640-01A-21DENST00000269305.4-5657_658TCGA
tcga3141TP537157OT-TCGAchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576TCGA-CQ-5329-01A-01DENST00000269305.4-81007TCGA
tcga3181TP537157OT-TCGAchr1775771427577142g.chr17:7577142C>Tchr17:7577142-7577142c.796G>Ac.(796-798)Gga>Agap.G266RMissense_MutationSNPCTTCGA-CQ-5330-01A-01DENST00000269305.4-8985TCGA
tcga3323TP537157OT-TCGAchr1775784037578403g.chr17:7578403C>Achr17:7578403-7578403c.527G>Tc.(526-528)tGc>tTcp.C176FMissense_MutationSNPCATCGA-CQ-5333-01A-01DENST00000269305.4-5716TCGA
tcga3526TP537157OT-TCGAchr1775782117578211g.chr17:7578211C>Gchr17:7578211-7578211c.638G>Cc.(637-639)cGa>cCap.R213PMissense_MutationSNPCGrs587778720TCGA-CQ-6219-01A-11DENST00000269305.4-6827TCGA
tcga3653TP537157OT-TCGAchr1775771247577124g.chr17:7577124C>Tchr17:7577124-7577124c.814G>Ac.(814-816)Gtg>Atgp.V272MMissense_MutationSNPCTrs121912657TCGA-CQ-6221-01A-11DENST00000269305.4-81003TCGA
tcga3769TP537157OT-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-CQ-6222-01A-11DENST00000269305.4-81033TCGA
tcga3770TP537157OT-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-CQ-6222-01A-11DENST00000269305.4-6826TCGA
tcga3853TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CQ-6224-01A-11DENST00000269305.4-7932TCGA
tcga3961TP537157OT-TCGAchr1775784037578403g.chr17:7578403C>Gchr17:7578403-7578403c.527G>Cc.(526-528)tGc>tCcp.C176SMissense_MutationSNPCGTCGA-CQ-6225-01A-11DENST00000269305.4-5716TCGA
tcga4113TP537157OT-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-CQ-6229-01A-11DENST00000269305.4-6826TCGA
tcga4159TP537157OT-TCGAchr1775783947578394g.chr17:7578394T>Gchr17:7578394-7578394c.536A>Cc.(535-537)cAt>cCtp.H179PMissense_MutationSNPTGTCGA-CQ-7065-01A-11DENST00000269305.4-5725TCGA
tcga4216TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CQ-A4CE-01A-11DENST00000269305.4-6775TCGA
tcga4284TP537157OT-TCGAchr1775797037579703g.chr17:7579703delAchr17:7579703-7579703c.93delTc.(91-93)gttfsp.V31fsFrame_Shift_DelDELA-TCGA-CQ-A4CH-01A-11DENST00000269305.4-3282TCGA
tcga4369TP537157OT-TCGAchr1775775947577595g.chr17:7577594_7577595delACchr17:7577594-7577595c.686_687delGTc.(685-687)tgtfsp.C229fsFrame_Shift_DelDELAC-TCGA-CR-6493-01A-11DENST00000269305.4-7875_876TCGA
tcga4370TP537157OT-TCGAchr1775785507578550g.chr17:7578550G>Tchr17:7578550-7578550c.380C>Ac.(379-381)tCc>tAcp.S127YMissense_MutationSNPGTTCGA-CR-6493-01A-11DENST00000269305.4-5569TCGA
tcga4418TP537157OT-TCGAchr1775794527579453g.chr17:7579452_7579453insGGGchr17:7579452-7579453c.234_235insCCCc.(232-237)gcAGagct>gcaCCCgagcp.79_79A>PEIn_Frame_InsINSCTGGGrs375099397TCGA-CR-7372-01A-11DENST00000269305.4-4423_424TCGA
tcga4632TP537157OT-TCGAchr1775793697579369g.chr17:7579369G>Cchr17:7579369-7579369c.318C>Gc.(316-318)agC>agGp.S106RMissense_MutationSNPGCTCGA-CR-7390-01A-11DENST00000269305.4-4507TCGA
tcga5076TP537157OT-TCGAchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651TCGA-CR-7397-01A-11DENST00000269305.4-7931TCGA
tcga5153TP537157OT-TCGAchr1775781777578177g.chr17:7578177C>Tchr17:7578177-7578177c.672G>Ac.(670-672)gaG>gaAp.E224ESplice_SiteSNPCTrs267605076TCGA-CR-7401-01A-11DENST00000269305.4-6861TCGA
tcga5317TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CV-5970-01A-11DENST00000269305.4-7932TCGA
tcga5573TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CV-5970-01A-11DENST00000269305.4-7932TCGA
tcga5796TP537157OT-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-CV-5973-01A-11DENST00000269305.4-81033TCGA
tcga5873TP537157OT-TCGAchr1775781907578190g.chr17:7578190T>Cchr17:7578190-7578190c.659A>Gc.(658-660)tAt>tGtp.Y220CMissense_MutationSNPTCrs121912666TCGA-CV-5976-01A-11DENST00000269305.4-6848TCGA
tcga5874TP537157OT-TCGAchr1775793587579358g.chr17:7579358C>Achr17:7579358-7579358c.329G>Tc.(328-330)cGt>cTtp.R110LMissense_MutationSNPCArs11540654|rs587780066TCGA-CV-5976-01A-11DENST00000269305.4-4518TCGA
tcga5977TP537157OT-TCGAchr1775768537576853g.chr17:7576853C>Tchr17:7576853-7576853c.993G>Ac.(991-993)caG>caAp.Q331QSplice_SiteSNPCTrs11575996TCGA-CV-5977-01A-11DENST00000269305.4-91182TCGA
tcga5978TP537157OT-TCGAchr1775770827577082g.chr17:7577082C>Tchr17:7577082-7577082c.856G>Ac.(856-858)Gaa>Aaap.E286KMissense_MutationSNPCTTCGA-CV-5977-01A-11DENST00000269305.4-81045TCGA
tcga6071TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CV-5979-01A-11DENST00000269305.4-7932TCGA
tcga6139TP537157OT-TCGAchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGATCGA-CV-6003-01A-11DENST00000269305.4-101213TCGA
tcga6325TP537157OT-TCGAchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576TCGA-CV-6436-01A-11DENST00000269305.4-81007TCGA
tcga6755TP537157OT-TCGAchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGATCGA-CV-6933-01A-11DENST00000269305.4-6763TCGA
tcga6955TP537157OT-TCGAchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGATCGA-CV-6933-01A-11DENST00000269305.4-6763TCGA
tcga7129TP537157OT-TCGAchr1775782357578235g.chr17:7578235T>Cchr17:7578235-7578235c.614A>Gc.(613-615)tAt>tGtp.Y205CMissense_MutationSNPTCTCGA-CV-6934-01A-11DENST00000269305.4-6803TCGA
tcga7244TP537157OT-TCGAchr1775782357578235g.chr17:7578235T>Cchr17:7578235-7578235c.614A>Gc.(613-615)tAt>tGtp.Y205CMissense_MutationSNPTCTCGA-CV-6934-01A-11DENST00000269305.4-6803TCGA
tcga7501TP537157OT-TCGAchr1775783847578401g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGGchr17:7578384-7578401c.529_546delCCCCACCATGAGCGCTGCc.(529-546)ccccaccatgagcgctgcdp.PHHERC177delIn_Frame_DelDELGCAGCGCTCATGGTGGGG-rs147002414|rs587782596|rs587780070|rs397514495TCGA-CV-6941-01A-11DENST00000269305.4-5718_735TCGA
tcga7712TP537157OT-TCGAchr1775782717578271g.chr17:7578271T>Achr17:7578271-7578271c.578A>Tc.(577-579)cAt>cTtp.H193LMissense_MutationSNPTATCGA-CV-6945-01A-11DENST00000269305.4-6767TCGA
tcga7903TP537157OT-TCGAchr1775771297577129g.chr17:7577129A>Cchr17:7577129-7577129c.809T>Gc.(808-810)tTt>tGtp.F270CMissense_MutationSNPACTCGA-CV-6951-01A-11DENST00000269305.4-8998TCGA
tcga7904TP537157OT-TCGAchr1775782177578217g.chr17:7578217G>Achr17:7578217-7578217c.632C>Tc.(631-633)aCt>aTtp.T211IMissense_MutationSNPGATCGA-CV-6951-01A-11DENST00000269305.4-6821TCGA
tcga8093TP537157OT-TCGAchr1775771297577129g.chr17:7577129A>Cchr17:7577129-7577129c.809T>Gc.(808-810)tTt>tGtp.F270CMissense_MutationSNPACTCGA-CV-6951-01A-11DENST00000269305.4-8998TCGA
tcga8094TP537157OT-TCGAchr1775782177578217g.chr17:7578217G>Achr17:7578217-7578217c.632C>Tc.(631-633)aCt>aTtp.T211IMissense_MutationSNPGATCGA-CV-6951-01A-11DENST00000269305.4-6821TCGA
tcga8287TP537157OT-TCGAchr1775771147577114g.chr17:7577114C>Achr17:7577114-7577114c.824G>Tc.(823-825)tGt>tTtp.C275FMissense_MutationSNPCATCGA-CV-6952-01A-11DENST00000269305.4-81013TCGA
tcga8501TP537157OT-TCGAchr1775771147577114g.chr17:7577114C>Achr17:7577114-7577114c.824G>Tc.(823-825)tGt>tTtp.C275FMissense_MutationSNPCATCGA-CV-6952-01A-11DENST00000269305.4-81013TCGA
tcga9082TP537157OT-TCGAchr1775793567579359g.chr17:7579356_7579359delGACGchr17:7579356-7579359c.328_331delCGTCc.(328-333)cgtctgfsp.RL110fsFrame_Shift_DelDELGACG-rs587781371|rs11540654|rs587780066TCGA-CV-6956-01A-21DENST00000269305.4-4517_520TCGA
tcga9326TP537157OT-TCGAchr1775793567579359g.chr17:7579356_7579359delGACGchr17:7579356-7579359c.328_331delCGTCc.(328-333)cgtctgfsp.RL110fsFrame_Shift_DelDELGACG-rs587781371|rs11540654|rs587780066TCGA-CV-6956-01A-21DENST00000269305.4-4517_520TCGA
tcga9502TP537157OT-TCGAchr1775793907579393g.chr17:7579390_7579393delGGAAchr17:7579390-7579393c.294_297delTTCCc.(292-297)ccttccfsp.PS98fsFrame_Shift_DelDELGGAA-TCGA-CV-6959-01A-11DENST00000269305.4-4483_486TCGA
tcga11146TP537157OT-TCGAchr1775784717578478g.chr17:7578471_7578478delGGGCGGGGchr17:7578471-7578478c.452_459delCCCCGCCCc.(451-459)cccccgcccfsp.PPP151fsFrame_Shift_DelDELGGGCGGGG-rs587782705|rs137852790|rs137852791|rs72661116TCGA-CV-7103-01A-21DENST00000269305.4-5641_648TCGA
tcga11369TP537157OT-TCGAchr1775776097577609g.chr17:7577609C>Tchr17:7577609-7577609-Splice_SiteSNPCTTCGA-CV-7104-01A-11DENST00000269305.4-7862TCGA
tcga11370TP537157OT-TCGAchr1775795757579575g.chr17:7579575G>Achr17:7579575-7579575c.112C>Tc.(112-114)Caa>Taap.Q38*Nonsense_MutationSNPGATCGA-CV-7104-01A-11DENST00000269305.4-4301TCGA
tcga11509TP537157OT-TCGAchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651TCGA-CV-7180-01A-11DENST00000269305.4-7931TCGA
tcga11579TP537157OT-TCGAchr1775785037578503g.chr17:7578503C>Tchr17:7578503-7578503c.427G>Ac.(427-429)Gtg>Atgp.V143MMissense_MutationSNPCTrs587782620TCGA-CV-7236-01A-11DENST00000269305.4-5616TCGA
tcga11684TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CV-7238-01A-11DENST00000269305.4-6775TCGA
tcga11884TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CV-7238-01A-11DENST00000269305.4-6775TCGA
tcga12058TP537157OT-TCGAchr1775784467578466g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGGchr17:7578446-7578466c.464_484delCCCGCGTCCGCGCCATGGc.(463-486)acccgcgtccgcgccatggp.TRVRAMA155delIn_Frame_DelDELTGGCCATGGCGCGGACGCGGG-rs377274728|rs371524413|rs139200646|rs563378859|rs193920817|rs587780068|rs121912654|rs587782144TCGA-CV-7243-01A-11DENST00000269305.4-5653_673TCGA
tcga12196TP537157OT-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-CV-7255-01A-11DENST00000269305.4-81105TCGA
tcga12334TP537157OT-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-CV-7255-01A-11DENST00000269305.4-81105TCGA
tcga12473TP537157OT-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-CV-7438-01A-21DENST00000269305.4-6826TCGA
tcga12669TP537157OT-TCGAchr1775784427578442g.chr17:7578442T>Cchr17:7578442-7578442c.488A>Gc.(487-489)tAc>tGcp.Y163CMissense_MutationSNPTCrs148924904TCGA-CV-7446-01A-11DENST00000269305.4-5677TCGA
tcga12868TP537157OT-TCGAchr1775770907577090g.chr17:7577090C>Tchr17:7577090-7577090c.848G>Ac.(847-849)cGc>cAcp.R283HMissense_MutationSNPCTrs371409680TCGA-CV-A45P-01A-11DENST00000269305.4-81037TCGA
tcga13044TP537157OT-TCGAchr1775771067577106g.chr17:7577106G>Achr17:7577106-7577106c.832C>Tc.(832-834)Cct>Tctp.P278SMissense_MutationSNPGArs17849781TCGA-CV-A45R-01A-11DENST00000269305.4-81021TCGA
tcga13154TP537157OT-TCGAchr1775793587579358g.chr17:7579358C>Achr17:7579358-7579358c.329G>Tc.(328-330)cGt>cTtp.R110LMissense_MutationSNPCArs11540654|rs587780066TCGA-CV-A465-01A-11DENST00000269305.4-4518TCGA
tcga13293TP537157OT-TCGAchr1775740187574018g.chr17:7574018G>Achr17:7574018-7574018c.1009C>Tc.(1009-1011)Cgc>Tgcp.R337CMissense_MutationSNPGArs587782529TCGA-CV-A6JT-01A-11DENST00000269305.4-101198TCGA
tcga13294TP537157OT-TCGAchr1775775807577580g.chr17:7577580T>Cchr17:7577580-7577580c.701A>Gc.(700-702)tAc>tGcp.Y234CMissense_MutationSNPTCrs587780073TCGA-CV-A6JT-01A-11DENST00000269305.4-7890TCGA
tcga13399TP537157OT-TCGAchr1775781767578176g.chr17:7578176C>Achr17:7578176-7578176-Splice_SiteSNPCATCGA-CV-A6JU-01A-11DENST00000269305.4-6862TCGA
tcga13743TP537157OT-TCGAchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576TCGA-D6-6515-01A-21DENST00000269305.4-81007TCGA
tcga13848TP537157OT-TCGAchr1775785207578520g.chr17:7578520A>Tchr17:7578520-7578520c.410T>Ac.(409-411)cTg>cAgp.L137QMissense_MutationSNPATTCGA-D6-6823-01A-11DENST00000269305.4-5599TCGA
tcga14012TP537157OT-TCGAchr1775783697578369g.chr17:7578369A>Cchr17:7578369-7578369-Splice_SiteSNPACTCGA-D6-6825-01A-21DENST00000269305.4-5749TCGA
tcga14132TP537157OT-TCGAchr1775771097577109g.chr17:7577109A>Cchr17:7577109-7577109c.829T>Gc.(829-831)Tgt>Ggtp.C277GMissense_MutationSNPACTCGA-D6-8569-01A-11DENST00000269305.4-81018TCGA
tcga14280TP537157OT-TCGAchr1775784427578442g.chr17:7578442T>Cchr17:7578442-7578442c.488A>Gc.(487-489)tAc>tGcp.Y163CMissense_MutationSNPTCrs148924904TCGA-D6-A4Z9-01A-11DENST00000269305.4-5677TCGA
tcga14425TP537157OT-TCGAchr1775782687578268g.chr17:7578268A>Cchr17:7578268-7578268c.581T>Gc.(580-582)cTt>cGtp.L194RMissense_MutationSNPACTCGA-D6-A4ZB-01A-11DENST00000269305.4-6770TCGA
tcga14626TP537157OT-TCGAchr1775783947578394g.chr17:7578394T>Cchr17:7578394-7578394c.536A>Gc.(535-537)cAt>cGtp.H179RMissense_MutationSNPTCTCGA-D6-A6EM-01A-21DENST00000269305.4-5725TCGA
tcga15091TP537157OT-TCGAchr1775768687576886g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTCchr17:7576868-7576886c.960_978delGAAACCACTGGATGGAGAc.(958-978)aagaaaccactggatggagp.KKPLDGE320fsFrame_Shift_DelDELTTCTCCATCCAGTGGTTTC-rs121912659TCGA-DQ-5630-01A-01DENST00000269305.4-91149_1167TCGA
tcga15202TP537157OT-TCGAchr1775740217574021g.chr17:7574021C>Achr17:7574021-7574021c.1006G>Tc.(1006-1008)Gag>Tagp.E336*Nonsense_MutationSNPCATCGA-DQ-5631-01A-01DENST00000269305.4-101195TCGA
tcga15203TP537157OT-TCGAchr1775775487577548g.chr17:7577548C>Tchr17:7577548-7577548c.733G>Ac.(733-735)Ggc>Agcp.G245SMissense_MutationSNPCTrs28934575|rs397516437TCGA-DQ-5631-01A-01DENST00000269305.4-7922TCGA
tcga15313TP537157OT-TCGAchr1775775757577575g.chr17:7577575A>Cchr17:7577575-7577575c.706T>Gc.(706-708)Tac>Gacp.Y236DMissense_MutationSNPACrs587782289TCGA-DQ-7592-01A-11DENST00000269305.4-7895TCGA
tcga15416TP537157OT-TCGAchr1775768537576853g.chr17:7576853C>Achr17:7576853-7576853c.993G>Tc.(991-993)caG>caTp.Q331HSplice_SiteSNPCArs11575996TCGA-F7-A50G-01A-11DENST00000269305.4-91182TCGA
tcga15767TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-F7-A61S-01A-11DENST00000269305.4-7932TCGA
tcga15898TP537157OT-TCGAchr1775768627576863g.chr17:7576862_7576863insAchr17:7576862-7576863c.983_984insTc.(982-984)ttcfsp.F328fsFrame_Shift_InsINS-ATCGA-F7-A61W-01A-11DENST00000269305.4-91172_1173TCGA
tcga15974TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-H7-A6C4-01A-11DENST00000269305.4-6775TCGA
tcga16017TP537157OT-TCGAchr1775782057578206g.chr17:7578205_7578206insTchr17:7578205-7578206c.643_644insAc.(643-645)agtfsp.S215fsFrame_Shift_InsINS-Trs587782177TCGA-HD-7831-01A-11DENST00000269305.4-6832_833TCGA
tcga16080TP537157OT-TCGAchr1775784577578457g.chr17:7578457C>Achr17:7578457-7578457c.473G>Tc.(472-474)cGc>cTcp.R158LMissense_MutationSNPCArs587782144TCGA-HD-8634-01A-11DENST00000269305.4-5662TCGA
tcga16221TP537157OT-TCGAchr1775783947578394g.chr17:7578394T>Cchr17:7578394-7578394c.536A>Gc.(535-537)cAt>cGtp.H179RMissense_MutationSNPTCTCGA-HD-8635-01A-11DENST00000269305.4-5725TCGA
tcga16492TP537157OT-TCGAchr1775783947578394g.chr17:7578394T>Cchr17:7578394-7578394c.536A>Gc.(535-537)cAt>cGtp.H179RMissense_MutationSNPTCTCGA-HD-8635-01A-11DENST00000269305.4-5725TCGA
tcga16714TP537157OT-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-HD-A6HZ-01A-12DENST00000269305.4-81105TCGA
tcga16715TP537157OT-TCGAchr1775775747577574g.chr17:7577574T>Cchr17:7577574-7577574c.707A>Gc.(706-708)tAc>tGcp.Y236CMissense_MutationSNPTCTCGA-HD-A6HZ-01A-12DENST00000269305.4-7896TCGA
tcga16862TP537157OT-TCGAchr1775730107573010g.chr17:7573010T>Achr17:7573010-7573010-Splice_SiteSNPTArs587781664TCGA-IQ-A61E-01A-22DENST00000269305.4-111290TCGA
tcga17087TP537157OT-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-IQ-A61H-01A-11DENST00000269305.4-6775TCGA
tcga17233TP537157OT-TCGAchr1775793117579311g.chr17:7579311C>Achr17:7579311-7579311-Splice_SiteSNPCATCGA-IQ-A61J-01A-11DENST00000269305.4-4565TCGA
tcga17292TP537157OT-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-IQ-A61K-01A-11DENST00000269305.4-5713TCGA
tcga17383TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-IQ-A61L-01A-11DENST00000269305.4-7932TCGA
tcga17384TP537157OT-TCGAchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651TCGA-IQ-A61L-01A-11DENST00000269305.4-7931TCGA
tcga17501TP537157OT-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-IQ-A6SG-01A-12DENST00000269305.4-81033TCGA
tcga17623TP537157OT-TCGAchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGATCGA-IQ-A6SH-01A-12DENST00000269305.4-6763TCGA
tcga17961TP537157OT-TCGAchr1775782727578272g.chr17:7578272G>Achr17:7578272-7578272c.577C>Tc.(577-579)Cat>Tatp.H193YMissense_MutationSNPGATCGA-P3-A5QA-01A-11DENST00000269305.4-6766TCGA
tcga18036TP537157OT-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-QK-A652-01A-11DENST00000269305.4-7932TCGA
tcga18037TP537157OT-TCGAchr1775775487577548g.chr17:7577548C>Tchr17:7577548-7577548c.733G>Ac.(733-735)Ggc>Agcp.G245SMissense_MutationSNPCTrs28934575|rs397516437TCGA-QK-A652-01A-11DENST00000269305.4-7922TCGA
tcga18129TP537157OT-TCGAchr1775793587579358g.chr17:7579358C>Achr17:7579358-7579358c.329G>Tc.(328-330)cGt>cTtp.R110LMissense_MutationSNPCArs11540654|rs587780066TCGA-QK-AA3K-01A-11DENST00000269305.4-4518TCGA
tcga18485TP537157OT-TCGAchr1775771247577124g.chr17:7577124C>Tchr17:7577124-7577124c.814G>Ac.(814-816)Gtg>Atgp.V272MMissense_MutationSNPCTrs121912657TCGA-T2-A6WZ-01A-21DENST00000269305.4-81003TCGA
tcga18486TP537157OT-TCGAchr1775781767578176g.chr17:7578176C>Achr17:7578176-7578176-Splice_SiteSNPCATCGA-T2-A6WZ-01A-21DENST00000269305.4-6862TCGA
tcga18619TP537157OT-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-UF-A7JS-01A-11DENST00000269305.4-81033TCGA
tcga18620TP537157OT-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-UF-A7JS-01A-11DENST00000269305.4-5713TCGA
tcga19305TP537157BM-TCGAchr1775785037578503g.chr17:7578503C>Tchr17:7578503-7578503c.427G>Ac.(427-429)Gtg>Atgp.V143MMissense_MutationSNPCTrs587782620TCGA-BA-5151-01A-01DENST00000269305.4-5616TCGA
tcga19404TP537157BM-TCGAchr1775793107579310g.chr17:7579310A>Tchr17:7579310-7579310-Splice_SiteSNPATTCGA-CN-4726-01A-01DENST00000269305.4-4565TCGA
tcga19518TP537157BM-TCGAchr1775784197578419g.chr17:7578419C>Achr17:7578419-7578419c.511G>Tc.(511-513)Gag>Tagp.E171*Nonsense_MutationSNPCArs587781845TCGA-CN-4731-01A-01DENST00000269305.4-5700TCGA
tcga19993TP537157BM-TCGAchr1775784337578433g.chr17:7578433G>Cchr17:7578433-7578433c.497C>Gc.(496-498)tCa>tGap.S166*Nonsense_MutationSNPGCTCGA-CQ-5334-01A-01DENST00000269305.4-5686TCGA
tcga19994TP537157BM-TCGAchr1775784577578457g.chr17:7578457C>Tchr17:7578457-7578457c.473G>Ac.(472-474)cGc>cAcp.R158HMissense_MutationSNPCTrs587782144TCGA-CQ-5334-01A-01DENST00000269305.4-5662TCGA
tcga20190TP537157BM-TCGAchr1775771007577100g.chr17:7577100T>Cchr17:7577100-7577100c.838A>Gc.(838-840)Aga>Ggap.R280GMissense_MutationSNPTCTCGA-CQ-6220-01A-11DENST00000269305.4-81027TCGA
tcga20316TP537157BM-TCGAchr1775775487577548g.chr17:7577548C>Tchr17:7577548-7577548c.733G>Ac.(733-735)Ggc>Agcp.G245SMissense_MutationSNPCTrs28934575|rs397516437TCGA-CQ-7064-01A-11DENST00000269305.4-7922TCGA
tcga20317TP537157BM-TCGAchr1775784427578442g.chr17:7578442T>Cchr17:7578442-7578442c.488A>Gc.(487-489)tAc>tGcp.Y163CMissense_MutationSNPTCrs148924904TCGA-CQ-7064-01A-11DENST00000269305.4-5677TCGA
tcga20452TP537157BM-TCGAchr1775770587577058g.chr17:7577058C>Achr17:7577058-7577058c.880G>Tc.(880-882)Gag>Tagp.E294*Nonsense_MutationSNPCATCGA-CQ-A4C6-01A-11DENST00000269305.4-81069TCGA
tcga20682TP537157BM-TCGAchr1775770057577025g.chr17:7577005_7577025delTCCTGCTTGCTTACCTCGCTTchr17:7577005-7577025c.913_920delAAGCGAGGTAAGCAAGCAc.(913-921)aagcgaggt>tp.KRG305delSplice_SiteDELTCCTGCTTGCTTACCTCGCTTCTGCTGrs121913344|rs199527475TCGA-CQ-A4CI-01A-11DENST00000269305.4-81102_1109TCGA
tcga20834TP537157BM-TCGAchr1775771027577119g.chr17:7577102_7577119delCCAGGACAGGCACAAACAchr17:7577102-7577119c.819_836delTGTTTGTGCCTGTCCTGGc.(817-837)cgtgtttgtgcctgtcctgp.VCACPG274delIn_Frame_DelDELCCAGGACAGGCACAAACA-rs17849781TCGA-CV-6940-01A-11DENST00000269305.4-81008_1025TCGA
tcga20960TP537157BM-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CV-A464-01A-11DENST00000269305.4-7932TCGA
tcga20961TP537157BM-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-CV-A464-01A-11DENST00000269305.4-5713TCGA
tcga21151TP537157BM-TCGAchr1775783987578398g.chr17:7578398delGchr17:7578398-7578398c.532delCc.(532-534)cacfsp.H179fsFrame_Shift_DelDELG-TCGA-DQ-7588-01A-11DENST00000269305.4-5721TCGA
tcga22558TP537157BM-TCGAchr1775775147577514g.chr17:7577514G>Achr17:7577514-7577514c.767C>Tc.(766-768)aCa>aTap.T256IMissense_MutationSNPGATCGA-F7-A624-01A-22DENST00000269305.4-7956TCGA
tcga22559TP537157BM-TCGAchr1775775667577566g.chr17:7577566T>Cchr17:7577566-7577566c.715A>Gc.(715-717)Aac>Gacp.N239DMissense_MutationSNPTCTCGA-F7-A624-01A-22DENST00000269305.4-7904TCGA
tcga25280TP537157BM-TCGAchr1775784427578442g.chr17:7578442T>Cchr17:7578442-7578442c.488A>Gc.(487-489)tAc>tGcp.Y163CMissense_MutationSNPTCrs148924904TCGA-H7-8501-01A-11DENST00000269305.4-5677TCGA
tcga25281TP537157BM-TCGAchr1775795217579521g.chr17:7579521C>Achr17:7579521-7579521c.166G>Tc.(166-168)Gaa>Taap.E56*Nonsense_MutationSNPCATCGA-H7-8501-01A-11DENST00000269305.4-4355TCGA
tcga25749TP537157BM-TCGAchr1775770907577090g.chr17:7577090C>Gchr17:7577090-7577090c.848G>Cc.(847-849)cGc>cCcp.R283PMissense_MutationSNPCGrs371409680TCGA-P3-A6T2-01A-11DENST00000269305.4-81037TCGA
tcga25750TP537157BM-TCGAchr1775775067577506g.chr17:7577506C>Tchr17:7577506-7577506c.775G>Ac.(775-777)Gac>Aacp.D259NMissense_MutationSNPCTTCGA-P3-A6T2-01A-11DENST00000269305.4-7964TCGA
tcga25850TP537157BM-TCGAchr1775770857577085g.chr17:7577085C>Achr17:7577085-7577085c.853G>Tc.(853-855)Gag>Tagp.E285*Nonsense_MutationSNPCArs112431538TCGA-QK-A6IG-01A-11DENST00000269305.4-81042TCGA
tcga26031TP537157BM-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-UF-A7JA-01A-12DENST00000269305.4-5713TCGA
tcga26032TP537157BM-TCGAchr1775794857579485g.chr17:7579485C>Achr17:7579485-7579485c.202G>Tc.(202-204)Gag>Tagp.E68*Nonsense_MutationSNPCATCGA-UF-A7JA-01A-12DENST00000269305.4-4391TCGA
tcga26265TP537157BM-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-UF-A7JD-01A-11DENST00000269305.4-6826TCGA
tcga26656TP537157OC-TCGAchr1775784027578402g.chr17:7578402G>Achr17:7578402-7578402c.528C>Tc.(526-528)tgC>tgTp.C176CSilentSNPGATCGA-BB-A5HU-01A-11DENST00000269305.4-5717TCGA
tcga26657TP537157OC-TCGAchr1775784037578403g.chr17:7578403C>Tchr17:7578403-7578403c.527G>Ac.(526-528)tGc>tAcp.C176YMissense_MutationSNPCTTCGA-BB-A5HU-01A-11DENST00000269305.4-5716TCGA
tcga26852TP537157OC-TCGAchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651TCGA-BB-A5HZ-01A-21DENST00000269305.4-7931TCGA
tcga26853TP537157OC-TCGAchr1775783927578392g.chr17:7578392C>Tchr17:7578392-7578392c.538G>Ac.(538-540)Gag>Aagp.E180KMissense_MutationSNPCTTCGA-BB-A5HZ-01A-21DENST00000269305.4-5727TCGA
tcga26956TP537157OC-TCGAchr1775795147579514g.chr17:7579514delGchr17:7579514-7579514c.173delCc.(172-174)ccafsp.P58fsFrame_Shift_DelDELG-rs144386518TCGA-CN-4728-01A-01DENST00000269305.4-4362TCGA
tcga27137TP537157OC-TCGAchr1775783947578394g.chr17:7578394T>Cchr17:7578394-7578394c.536A>Gc.(535-537)cAt>cGtp.H179RMissense_MutationSNPTCTCGA-CN-4729-01A-01DENST00000269305.4-5725TCGA
tcga27138TP537157OC-TCGAchr1775784617578461g.chr17:7578461C>Achr17:7578461-7578461c.469G>Tc.(469-471)Gtc>Ttcp.V157FMissense_MutationSNPCArs121912654TCGA-CN-4729-01A-01DENST00000269305.4-5658TCGA
tcga27329TP537157OC-TCGAchr1775785247578524g.chr17:7578524G>Achr17:7578524-7578524c.406C>Tc.(406-408)Caa>Taap.Q136*Nonsense_MutationSNPGATCGA-CN-4740-01A-01DENST00000269305.4-5595TCGA
tcga27330TP537157OC-TCGAchr1775795917579591g.chr17:7579591C>Tchr17:7579591-7579591-Splice_SiteSNPCTTCGA-CN-4740-01A-01DENST00000269305.4-4286TCGA
tcga27492TP537157OC-TCGAchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651TCGA-CN-6018-01A-11DENST00000269305.4-7931TCGA
tcga27644TP537157OC-TCGAchr1775781777578177g.chr17:7578177C>Achr17:7578177-7578177c.672G>Tc.(670-672)gaG>gaTp.E224DSplice_SiteSNPCArs267605076TCGA-CN-6020-01A-11DENST00000269305.4-6861TCGA
tcga27822TP537157OC-TCGAchr1775770907577090g.chr17:7577090C>Gchr17:7577090-7577090c.848G>Cc.(847-849)cGc>cCcp.R283PMissense_MutationSNPCGrs371409680TCGA-CN-6994-01A-11DENST00000269305.4-81037TCGA
tcga27823TP537157OC-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-CN-6994-01A-11DENST00000269305.4-5713TCGA
tcga28631TP537157OC-TCGAchr1775729597572962g.chr17:7572959_7572962delTGAGchr17:7572959-7572962c.1147_1150delCTCAc.(1147-1152)ctcatgfsp.LM383fsFrame_Shift_DelDELTGAG-rs150842067|rs373710656TCGA-CQ-A4CD-01A-21DENST00000269305.4-111336_1339TCGA
tcga28632TP537157OC-TCGAchr1775785247578524g.chr17:7578524G>Cchr17:7578524-7578524c.406C>Gc.(406-408)Caa>Gaap.Q136EMissense_MutationSNPGCTCGA-CQ-A4CD-01A-21DENST00000269305.4-5595TCGA
tcga29035TP537157OC-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CR-6484-01A-11DENST00000269305.4-6775TCGA
tcga29316TP537157OC-TCGAchr1775782037578203g.chr17:7578203C>Tchr17:7578203-7578203c.646G>Ac.(646-648)Gtg>Atgp.V216MMissense_MutationSNPCTTCGA-CR-7365-01A-11DENST00000269305.4-6835TCGA
tcga29758TP537157OC-TCGAchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652TCGA-CR-7368-01A-11DENST00000269305.4-7932TCGA
tcga30102TP537157OC-TCGAchr1775771397577139g.chr17:7577139G>Cchr17:7577139-7577139c.799C>Gc.(799-801)Cgg>Gggp.R267GMissense_MutationSNPGCrs55832599TCGA-CR-7373-01A-11DENST00000269305.4-8988TCGA
tcga30219TP537157OC-TCGAchr1775770987577098g.chr17:7577098T>Gchr17:7577098-7577098c.840A>Cc.(838-840)agA>agCp.R280SMissense_MutationSNPTGTCGA-CR-7376-01A-11DENST00000269305.4-81029TCGA
tcga30220TP537157OC-TCGAchr1775796987579699g.chr17:7579698_7579699insCCchr17:7579698-7579699-Splice_SiteINS-CCTCGA-CR-7376-01A-11DENST00000269305.4-3286TCGA
tcga30313TP537157OC-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-CR-7377-01A-11DENST00000269305.4-81105TCGA
tcga30496TP537157OC-TCGAchr1775771537577153g.chr17:7577153C>Achr17:7577153-7577153c.785G>Tc.(784-786)gGt>gTtp.G262VMissense_MutationSNPCATCGA-CR-7379-01A-11DENST00000269305.4-8974TCGA
tcga30497TP537157OC-TCGAchr1775785227578522g.chr17:7578522T>Achr17:7578522-7578522c.408A>Tc.(406-408)caA>caTp.Q136HMissense_MutationSNPTATCGA-CR-7379-01A-11DENST00000269305.4-5597TCGA
tcga30652TP537157OC-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-CR-7380-01A-11DENST00000269305.4-81033TCGA
tcga30805TP537157OC-TCGAchr1775782177578218g.chr17:7578217_7578218delGTchr17:7578217-7578218c.631_632delACc.(631-633)actfsp.T211fsFrame_Shift_DelDELGT-TCGA-CR-7386-01A-11DENST00000269305.4-6820_821TCGA
tcga31234TP537157OC-TCGAchr1775784797578479g.chr17:7578479G>Tchr17:7578479-7578479c.451C>Ac.(451-453)Ccc>Accp.P151TMissense_MutationSNPGTrs28934874|rs137852790|rs137852791TCGA-CV-5966-01A-11DENST00000269305.4-5640TCGA
tcga31377TP537157OC-TCGAchr1775784797578479g.chr17:7578479G>Tchr17:7578479-7578479c.451C>Ac.(451-453)Ccc>Accp.P151TMissense_MutationSNPGTrs28934874|rs137852790|rs137852791TCGA-CV-5966-01A-11DENST00000269305.4-5640TCGA
tcga31532TP537157OC-TCGAchr1775782327578232g.chr17:7578232delAchr17:7578232-7578232c.617delTc.(616-618)ttgfsp.L206fsFrame_Shift_DelDELA-TCGA-CV-6937-01A-11DENST00000269305.4-6806TCGA
tcga32109TP537157OC-TCGAchr1775768557576855g.chr17:7576855G>Achr17:7576855-7576855c.991C>Tc.(991-993)Cag>Tagp.Q331*Nonsense_MutationSNPGATCGA-CV-6942-01A-21DENST00000269305.4-91180TCGA
tcga32110TP537157OC-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-CV-6942-01A-21DENST00000269305.4-6826TCGA
tcga32631TP537157OC-TCGAchr1775771427577142g.chr17:7577142C>Achr17:7577142-7577142c.796G>Tc.(796-798)Gga>Tgap.G266*Nonsense_MutationSNPCATCGA-CV-6960-01A-41DENST00000269305.4-8985TCGA
tcga32632TP537157OC-TCGAchr1775771437577143g.chr17:7577143C>Achr17:7577143-7577143c.795G>Tc.(793-795)ctG>ctTp.L265LSilentSNPCATCGA-CV-6960-01A-41DENST00000269305.4-8984TCGA
tcga32859TP537157OC-TCGAchr1775771427577142g.chr17:7577142C>Achr17:7577142-7577142c.796G>Tc.(796-798)Gga>Tgap.G266*Nonsense_MutationSNPCATCGA-CV-6960-01A-41DENST00000269305.4-8985TCGA
tcga32860TP537157OC-TCGAchr1775771437577143g.chr17:7577143C>Achr17:7577143-7577143c.795G>Tc.(793-795)ctG>ctTp.L265LSilentSNPCATCGA-CV-6960-01A-41DENST00000269305.4-8984TCGA
tcga33055TP537157OC-TCGAchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576TCGA-CV-7090-01A-11DENST00000269305.4-81007TCGA
tcga33184TP537157OC-TCGAchr1775797187579718g.chr17:7579718delAchr17:7579718-7579718c.78delTc.(76-78)cttfsp.L26fsFrame_Shift_DelDELA-rs397516438TCGA-CV-7091-01A-11DENST00000269305.4-3267TCGA
tcga33391TP537157OC-TCGAchr1775797187579718g.chr17:7579718delAchr17:7579718-7579718c.78delTc.(76-78)cttfsp.L26fsFrame_Shift_DelDELA-rs397516438TCGA-CV-7091-01A-11DENST00000269305.4-3267TCGA
tcga33642TP537157OC-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CV-7095-01A-21DENST00000269305.4-6775TCGA
tcga33937TP537157OC-TCGAchr1775782637578263g.chr17:7578263G>Achr17:7578263-7578263c.586C>Tc.(586-588)Cga>Tgap.R196*Nonsense_MutationSNPGArs397516435TCGA-CV-7095-01A-21DENST00000269305.4-6775TCGA
tcga34539TP537157OC-TCGAchr1775770857577085g.chr17:7577085C>Tchr17:7577085-7577085c.853G>Ac.(853-855)Gag>Aagp.E285KMissense_MutationSNPCTrs112431538TCGA-CV-7099-01A-41DENST00000269305.4-81042TCGA
tcga34915TP537157OC-TCGAchr1775771207577137g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTCchr17:7577120-7577137c.801_818delGAACAGCTTTGAGGTGCGc.(799-819)cggaacagctttgaggtgcp.267_273RNSFEVR>RIn_Frame_DelDELCGCACCTCAAAGCTGTTC-rs121912657|rs28934576|rs121913343TCGA-CV-7178-01A-21DENST00000269305.4-8990_1007TCGA
tcga35073TP537157OC-TCGAchr1775771207577137g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTCchr17:7577120-7577137c.801_818delGAACAGCTTTGAGGTGCGc.(799-819)cggaacagctttgaggtgcp.267_273RNSFEVR>RIn_Frame_DelDELCGCACCTCAAAGCTGTTC-rs121912657|rs28934576|rs121913343TCGA-CV-7178-01A-21DENST00000269305.4-8990_1007TCGA
tcga35442TP537157OC-TCGAchr1775782677578268g.chr17:7578267_7578268insAGchr17:7578267-7578268c.581_582insCTc.(580-582)cttfsp.L194fsFrame_Shift_InsINS-AGrs370216745TCGA-CV-7252-01A-11DENST00000269305.4-6770_771TCGA
tcga35443TP537157OC-TCGAchr1775795337579533g.chr17:7579533G>Achr17:7579533-7579533c.154C>Tc.(154-156)Caa>Taap.Q52*Nonsense_MutationSNPGATCGA-CV-7252-01A-11DENST00000269305.4-4343TCGA
tcga35780TP537157OC-TCGAchr1775782677578268g.chr17:7578267_7578268insAGchr17:7578267-7578268c.581_582insCTc.(580-582)cttfsp.L194fsFrame_Shift_InsINS-AGrs370216745TCGA-CV-7252-01A-11DENST00000269305.4-6770_771TCGA
tcga35781TP537157OC-TCGAchr1775795337579533g.chr17:7579533G>Achr17:7579533-7579533c.154C>Tc.(154-156)Caa>Taap.Q52*Nonsense_MutationSNPGATCGA-CV-7252-01A-11DENST00000269305.4-4343TCGA
tcga36070TP537157OC-TCGAchr1775771267577126g.chr17:7577126T>Achr17:7577126-7577126c.812A>Tc.(811-813)gAg>gTgp.E271VMissense_MutationSNPTATCGA-CV-7253-01A-11DENST00000269305.4-81001TCGA
tcga36351TP537157OC-TCGAchr1775775087577508g.chr17:7577508T>Gchr17:7577508-7577508c.773A>Cc.(772-774)gAa>gCap.E258AMissense_MutationSNPTGTCGA-CV-7254-01A-11DENST00000269305.4-7962TCGA
tcga36632TP537157OC-TCGAchr1775793787579378g.chr17:7579378G>Cchr17:7579378-7579378c.309C>Gc.(307-309)taC>taGp.Y103*Nonsense_MutationSNPGCTCGA-CV-7263-01A-11DENST00000269305.4-4498TCGA
tcga36800TP537157OC-TCGAchr1775793787579378g.chr17:7579378G>Cchr17:7579378-7579378c.309C>Gc.(307-309)taC>taGp.Y103*Nonsense_MutationSNPGCTCGA-CV-7263-01A-11DENST00000269305.4-4498TCGA
tcga37101TP537157OC-TCGAchr1775793747579374g.chr17:7579374C>Achr17:7579374-7579374c.313G>Tc.(313-315)Ggc>Tgcp.G105CMissense_MutationSNPCATCGA-CV-7413-01A-11DENST00000269305.4-4502TCGA
tcga37194TP537157OC-TCGAchr1775793747579374g.chr17:7579374C>Achr17:7579374-7579374c.313G>Tc.(313-315)Ggc>Tgcp.G105CMissense_MutationSNPCATCGA-CV-7413-01A-11DENST00000269305.4-4502TCGA
tcga37377TP537157OC-TCGAchr1775770857577085g.chr17:7577085C>Tchr17:7577085-7577085c.853G>Ac.(853-855)Gag>Aagp.E285KMissense_MutationSNPCTrs112431538TCGA-CV-7414-01A-11DENST00000269305.4-81042TCGA
tcga37623TP537157OC-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-CV-7416-01A-11DENST00000269305.4-5713TCGA
tcga37722TP537157OC-TCGAchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578TCGA-CV-7416-01A-11DENST00000269305.4-5713TCGA
tcga37814TP537157OC-TCGAchr1775740127574012g.chr17:7574012C>Achr17:7574012-7574012c.1015G>Tc.(1015-1017)Gag>Tagp.E339*Nonsense_MutationSNPCArs17882252TCGA-CV-7423-01A-11DENST00000269305.4-101204TCGA
tcga37913TP537157OC-TCGAchr1775740127574012g.chr17:7574012C>Achr17:7574012-7574012c.1015G>Tc.(1015-1017)Gag>Tagp.E339*Nonsense_MutationSNPCArs17882252TCGA-CV-7423-01A-11DENST00000269305.4-101204TCGA
tcga38870TP537157OC-TCGAchr1775775547577564g.chr17:7577554_7577564delTGCAGGAACTGchr17:7577554-7577564c.717_727delCAGTTCCTGCAc.(715-729)aacagttcctgcatgfsp.SSCM240fsFrame_Shift_DelDELTGCAGGAACTG-rs121912655|rs397516437|rs28934573|rs375874539TCGA-CV-7432-01A-11DENST00000269305.4-7906_916TCGA
tcga38871TP537157OC-TCGAchr1775793127579312g.chr17:7579312C>Achr17:7579312-7579312c.375G>Tc.(373-375)acG>acTp.T125TSplice_SiteSNPCArs55863639TCGA-CV-7432-01A-11DENST00000269305.4-4564TCGA
tcga39073TP537157OC-TCGAchr1775775547577564g.chr17:7577554_7577564delTGCAGGAACTGchr17:7577554-7577564c.717_727delCAGTTCCTGCAc.(715-729)aacagttcctgcatgfsp.SSCM240fsFrame_Shift_DelDELTGCAGGAACTG-rs121912655|rs397516437|rs28934573|rs375874539TCGA-CV-7432-01A-11DENST00000269305.4-7906_916TCGA
tcga39074TP537157OC-TCGAchr1775793127579312g.chr17:7579312C>Achr17:7579312-7579312c.375G>Tc.(373-375)acG>acTp.T125TSplice_SiteSNPCArs55863639TCGA-CV-7432-01A-11DENST00000269305.4-4564TCGA
tcga39262TP537157OC-TCGAchr1775785277578527g.chr17:7578527delAchr17:7578527-7578527c.403delTc.(403-405)tgcfsp.C135fsFrame_Shift_DelDELA-TCGA-CV-7434-01A-11DENST00000269305.4-5592TCGA
tcga39387TP537157OC-TCGAchr1775785277578527g.chr17:7578527delAchr17:7578527-7578527c.403delTc.(403-405)tgcfsp.C135fsFrame_Shift_DelDELA-TCGA-CV-7434-01A-11DENST00000269305.4-5592TCGA
tcga39510TP537157OC-TCGAchr1775781907578190g.chr17:7578190T>Cchr17:7578190-7578190c.659A>Gc.(658-660)tAt>tGtp.Y220CMissense_MutationSNPTCrs121912666TCGA-CV-7435-01A-11DENST00000269305.4-6848TCGA
tcga39615TP537157OC-TCGAchr1775781907578190g.chr17:7578190T>Cchr17:7578190-7578190c.659A>Gc.(658-660)tAt>tGtp.Y220CMissense_MutationSNPTCrs121912666TCGA-CV-7435-01A-11DENST00000269305.4-6848TCGA
tcga40698TP537157OC-TCGAchr1775771067577106g.chr17:7577106G>Achr17:7577106-7577106c.832C>Tc.(832-834)Cct>Tctp.P278SMissense_MutationSNPGArs17849781TCGA-CV-7568-01A-11DENST00000269305.4-81021TCGA
tcga42968TP537157OC-TCGAchr1775797227579722g.chr17:7579722C>Gchr17:7579722-7579722-Splice_SiteSNPCGTCGA-CV-A45Q-01A-11DENST00000269305.4-3264TCGA
tcga43305TP537157OC-TCGAchr1775770467577046g.chr17:7577046C>Achr17:7577046-7577046c.892G>Tc.(892-894)Gag>Tagp.E298*Nonsense_MutationSNPCArs201744589TCGA-CV-A45U-01A-12DENST00000269305.4-81081TCGA
tcga43686TP537157OC-TCGAchr1775770987577098g.chr17:7577098T>Achr17:7577098-7577098c.840A>Tc.(838-840)agA>agTp.R280SMissense_MutationSNPTATCGA-CV-A6JE-01A-11DENST00000269305.4-81029TCGA
tcga43687TP537157OC-TCGAchr1775781907578190g.chr17:7578190T>Cchr17:7578190-7578190c.659A>Gc.(658-660)tAt>tGtp.Y220CMissense_MutationSNPTCrs121912666TCGA-CV-A6JE-01A-11DENST00000269305.4-6848TCGA
tcga43828TP537157OC-TCGAchr1775785197578522g.chr17:7578519_7578522delCAGTchr17:7578519-7578522c.408_411delACTGc.(406-411)caactgfsp.QL136fsFrame_Shift_DelDELCAGT-TCGA-CV-A6JN-01A-11DENST00000269305.4-5597_600TCGA
tcga43936TP537157OC-TCGAchr1775784957578496g.chr17:7578495_7578496insAchr17:7578495-7578496c.434_435insTc.(433-435)ctgfsp.L145fsFrame_Shift_InsINS-Ars587782197TCGA-CV-A6JY-01A-11DENST00000269305.4-5623_624TCGA
tcga44055TP537157OC-TCGAchr1775784037578403g.chr17:7578403C>Achr17:7578403-7578403c.527G>Tc.(526-528)tGc>tTcp.C176FMissense_MutationSNPCATCGA-CV-A6JZ-01A-11DENST00000269305.4-5716TCGA
tcga44437TP537157OC-TCGAchr1775775437577543g.chr17:7577543C>Gchr17:7577543-7577543c.738G>Cc.(736-738)atG>atCp.M246IMissense_MutationSNPCGrs397516437TCGA-CV-A6K2-01A-11DENST00000269305.4-7927TCGA
tcga45064TP537157OC-TCGAchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436TCGA-CX-7082-01A-11DENST00000269305.4-6826TCGA
tcga45431TP537157OC-TCGAchr1775739847573984g.chr17:7573984A>Gchr17:7573984-7573984c.1043T>Cc.(1042-1044)tTg>tCgp.L348SMissense_MutationSNPAGTCGA-HD-A633-01A-11DENST00000269305.4-101232TCGA
tcga45432TP537157OC-TCGAchr1775775037577504g.chr17:7577503_7577504delAGchr17:7577503-7577504c.777_778delCTc.(775-780)gactccfsp.S261fsFrame_Shift_DelDELAGTTCGA-HD-A633-01A-11DENST00000269305.4-7966_967TCGA
tcga46056TP537157OC-TCGAchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs121913344TCGA-P3-A6T3-01A-11DENST00000269305.4-81105TCGA
tcga46057TP537157OC-TCGAchr1775775487577548g.chr17:7577548C>Tchr17:7577548-7577548c.733G>Ac.(733-735)Ggc>Agcp.G245SMissense_MutationSNPCTrs28934575|rs397516437TCGA-P3-A6T3-01A-11DENST00000269305.4-7922TCGA
tcga46227TP537157OC-TCGAchr1775770947577094g.chr17:7577094G>Achr17:7577094-7577094c.844C>Tc.(844-846)Cgg>Tggp.R282WMissense_MutationSNPGArs28934574TCGA-RS-A6TO-01A-32DENST00000269305.4-81033TCGA
tcga46228TP537157OC-TCGAchr1775782757578275g.chr17:7578275G>Achr17:7578275-7578275c.574C>Tc.(574-576)Cag>Tagp.Q192*Nonsense_MutationSNPGATCGA-RS-A6TO-01A-32DENST00000269305.4-6763TCGA













OSCC: Oral Squamous Cell Carcinoma OTSCC: Oral Tongue Squamous Cell Carcinoma

DBIDGene nameEntrez IdDiseaseChromStartEndGenome changeUCSC BrowsercDNA changeCodon changeProtein changeVariant classVariant typeReferrence AlleleTumor AlleledbSNP IDSample IdAnnotation transcriptTranscript strandTranscript exonTranscript positionReference
esj5631BRCA2675OTSCCchr133291077332910773g.chr13:32910773T>Cchr13:32910773-32910773c.2281T>Cc.(2281-2283)Tat>Catp.Y761HMissense_MutationSNPTCrs80358499OT18ENST00000380152.3+11251426834999
esj26649BRCA2675OSCCchr133297217332972173g.chr13:32972173G>Tchr13:32972173-32972173IntronSNPGTSample_P57ENST00000380152.3+27988128878238
esj320NOTCH14851OTSCCchr9139412252139412252g.chr9:139412252C>Tchr9:139412252-139412252c.1393G>Ac.(1393-1395)Gcc>Accp.A465TMissense_MutationSNPCT38TENST00000277541.6-8146828939077
esj321NOTCH14851OTSCCchr9139407858139407858g.chr9:139407858C>Tchr9:139407858-139407858c.2339G>Ac.(2338-2340)cGg>cAgp.R780QMissense_MutationSNPCT66TENST00000277541.6-14241428939077
esj322NOTCH14851OTSCCchr9139410120139410120g.chr9:139410120T>Gchr9:139410120-139410120c.1718A>Cc.(1717-1719)gAc>gCcp.D573AMissense_MutationSNPTG8TENST00000277541.6-11179328939077
esj323NOTCH14851OTSCCchr9139410440139410440g.chr9:139410440G>Tchr9:139410440-139410440c.1662C>Ac.(1660-1662)tgC>tgAp.C554*Nonsense_MutationSNPGT24TENST00000277541.6-10173728939077
esj702NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG38TENST00000277541.6-465528939077
esj703NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG37TENST00000277541.6-465528939077
esj704NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG66TENST00000277541.6-465528939077
esj705NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG62TENST00000277541.6-465528939077
esj706NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG25TENST00000277541.6-465528939077
esj707NOTCH14851OTSCCchr9139417464139417464g.chr9:139417464T>Gchr9:139417464-139417464c.580A>Cc.(580-582)Acc>Cccp.T194PMissense_MutationSNPTG68TENST00000277541.6-465528939077
esj4486NOTCH14851OTSCCchr9139405261139405261g.chr9:139405261C>Tchr9:139405261-139405261IntronSNPCTrs3125001OT6ENST00000277541.6-17266326834999
esj4487NOTCH14851OTSCCchr9139409752139409761g.chr9:139409752_139409761delCGGCTCACAGchr9:139409752-139409761c.1995_2004delCTGTGAGCCGc.(1993-2004)gcctgtgagccgfsp.ACEP665fsFrame_Shift_DelDELCGGCTCACAG-rs576030298OT14ENST00000277541.6-122070_207926834999
esj4488NOTCH14851OTSCCchr9139413179139413180g.chr9:139413179_139413180insGCAGTTchr9:139413179-139413180c.962_963insAACTGCc.(961-963)tgc>tgAACTGCcp.321_321C>*TAIn_Frame_InsINS-GCAGTTrs201158068OT32ENST00000277541.6-61037_103826834999
esj11207NOTCH14851OSCCchr9139418406139418406g.chr9:139418406G>Achr9:139418406-139418406c.166C>Tc.(166-168)Cga>Tgap.R56*Nonsense_MutationSNPGASample_P04ENST00000277541.6-324128878238
esj13097NOTCH14851OSCCchr9139402492139402492g.chr9:139402492C>Achr9:139402492-139402492c.3425G>Tc.(3424-3426)tGt>tTtp.C1142FMissense_MutationSNPCASample_P15ENST00000277541.6-21350028878238
esj16963NOTCH14851OSCCchr9139400339139400339g.chr9:139400339C>Tchr9:139400339-139400339IntronSNPCTSample_P23ENST00000277541.6-25409028878238
esj19036NOTCH14851OSCCchr9139412663139412663g.chr9:139412663C>Tchr9:139412663-139412663c.1181G>Ac.(1180-1182)gGc>gAcp.G394DMissense_MutationSNPCTSample_P35ENST00000277541.6-7125628878238
esj21112NOTCH14851OSCCchr9139412744139412744g.chr9:139412744C>Achr9:139412744-139412744c.1100G>Tc.(1099-1101)gGt>gTtp.G367VSplice_SiteSNPCASample_P40ENST00000277541.6-7117528878238
esj24539NOTCH14851OSCCchr9139400327139400327g.chr9:139400327C>Achr9:139400327-139400327c.4021G>Tc.(4021-4023)Gag>Tagp.E1341*Nonsense_MutationSNPCArs372767143Sample_P51ENST00000277541.6-25409628878238
esj26145NOTCH14851OSCCchr9139399444139399444g.chr9:139399444C>Tchr9:139399444-139399444c.4699G>Ac.(4699-4701)Gag>Aagp.E1567KMissense_MutationSNPCTSample_P55ENST00000277541.6-26477428878238
esj26146NOTCH14851OSCCchr9139409018139409018g.chr9:139409018G>Tchr9:139409018-139409018c.2151C>Ac.(2149-2151)gtC>gtAp.V717VSilentSNPGTSample_P55ENST00000277541.6-13222628878238
esj26147NOTCH14851OSCCchr9139413085139413085g.chr9:139413085G>Achr9:139413085-139413085c.1057C>Tc.(1057-1059)Cgt>Tgtp.R353CMissense_MutationSNPGASample_P55ENST00000277541.6-6113228878238
esj26556NOTCH14851OSCCchr9139402690139402690g.chr9:139402690G>Achr9:139402690-139402690c.3319C>Tc.(3319-3321)Cga>Tgap.R1107*Nonsense_MutationSNPGArs41309764Sample_P56ENST00000277541.6-20339428878238
esj26925NOTCH14851OSCCchr9139400233139400233g.chr9:139400233C>Achr9:139400233-139400233c.4115G>Tc.(4114-4116)tGc>tTcp.C1372FMissense_MutationSNPCASample_P57ENST00000277541.6-25419028878238
esj26926NOTCH14851OSCCchr9139412282139412282g.chr9:139412282C>Tchr9:139412282-139412282c.1363G>Ac.(1363-1365)Gag>Aagp.E455KMissense_MutationSNPCTSample_P57ENST00000277541.6-8143828878238
esj27782NOTCH14851OSCCchr9139397646139397646g.chr9:139397646C>Achr9:139397646-139397646c.5155G>Tc.(5155-5157)Gag>Tagp.E1719*Nonsense_MutationSNPCASample_P59ENST00000277541.6-27523028878238
esj30421NOTCH14851OSCCchr9139417591139417591g.chr9:139417591delTchr9:139417591-139417591c.453delAc.(451-453)aaafsp.K151fsFrame_Shift_DelDELT-rs368733465Sample_P39ENST00000277541.6-452828878238
esj31542NOTCH14851OSCCchr9139413069139413071g.chr9:139413069_139413071delAGAchr9:139413069-139413071c.1071_1073delTCTc.(1069-1074)tttctc>ttcp.L358delIn_Frame_DelDELAGA-Sample_P62ENST00000277541.6-61146_114828878238
esj31611NOTCH14851OSCCchr9139399458139399459g.chr9:139399458_139399459delCAchr9:139399458-139399459c.4684_4685delTGc.(4684-4686)tggfsp.W1562fsFrame_Shift_DelDELCA-Sample_P63ENST00000277541.6-264759_476028878238
esj84TP537157OTSCCchr1775775487577548g.chr17:7577548C>Tchr17:7577548-7577548c.733G>Ac.(733-735)Ggc>Agcp.G245SMissense_MutationSNPCTrs28934575|rs39751643738TENST00000269305.4-792228939077
esj85TP537157OTSCCchr1775785177578517g.chr17:7578517G>Achr17:7578517-7578517c.413C>Tc.(412-414)gCc>gTcp.A138VMissense_MutationSNPGA67TENST00000269305.4-560228939077
esj86TP537157OTSCCchr1775784487578448g.chr17:7578448G>Tchr17:7578448-7578448c.482C>Ac.(481-483)gCc>gAcp.A161DMissense_MutationSNPGT66TENST00000269305.4-567128939077
esj87TP537157OTSCCchr1775740187574018g.chr17:7574018G>Achr17:7574018-7574018c.1009C>Tc.(1009-1011)Cgc>Tgcp.R337CMissense_MutationSNPGArs58778252966TENST00000269305.4-10119828939077
esj88TP537157OTSCCchr1775784617578461g.chr17:7578461C>Achr17:7578461-7578461c.469G>Tc.(469-471)Gtc>Ttcp.V157FMissense_MutationSNPCArs12191265424TENST00000269305.4-565828939077
esj89TP537157OTSCCchr1775768557576855g.chr17:7576855G>Achr17:7576855-7576855c.991C>Tc.(991-993)Cag>Tagp.Q331*Nonsense_MutationSNPGA25TENST00000269305.4-9118028939077
esj780TP537157OTSCCchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs12191334437TENST00000269305.4-8110528939077
esj781TP537157OTSCCchr1775770227577022g.chr17:7577022G>Achr17:7577022-7577022c.916C>Tc.(916-918)Cga>Tgap.R306*Nonsense_MutationSNPGArs12191334468TENST00000269305.4-8110528939077
esj6655TP537157OTSCCchr1775740037574003g.chr17:7574003G>Achr17:7574003-7574003c.1024C>Tc.(1024-1026)Cga>Tgap.R342*Nonsense_MutationSNPGAOT27ENST00000269305.4-10121326834999
esj6656TP537157OTSCCchr1775740177574017g.chr17:7574017C>Tchr17:7574017-7574017c.1010G>Ac.(1009-1011)cGc>cAcp.R337HMissense_MutationSNPCTrs121912664OT42ENST00000269305.4-10119926834999
esj6657TP537157OTSCCchr1775771057577105g.chr17:7577105G>Achr17:7577105-7577105c.833C>Tc.(832-834)cCt>cTtp.P278LMissense_MutationSNPGAOT12ENST00000269305.4-8102226834999
esj6658TP537157OTSCCchr1775771207577120g.chr17:7577120C>Tchr17:7577120-7577120c.818G>Ac.(817-819)cGt>cAtp.R273HMissense_MutationSNPCTrs28934576OT1ENST00000269305.4-8100726834999
esj6659TP537157OTSCCchr1775774987577498g.chr17:7577498C>Achr17:7577498-7577498-Splice_SiteSNPCAOT51ENST00000269305.4-797226834999
esj6660TP537157OTSCCchr1775775277577527g.chr17:7577527delGchr17:7577527-7577527c.754delCc.(754-756)ctcfsp.L252fsFrame_Shift_DelDELG-OT37ENST00000269305.4-794326834999
esj6661TP537157OTSCCchr1775775327577533g.chr17:7577532_7577533insGGCCTCCGGTTCATchr17:7577532-7577533c.748_749insATGAACCGGAGGCCc.(748-750)cccfsp.P250fsFrame_Shift_InsINS-GGCCTCCGGTTCATOT46ENST00000269305.4-7937_93826834999
esj6662TP537157OTSCCchr1775775387577538g.chr17:7577538C>Tchr17:7577538-7577538c.743G>Ac.(742-744)cGg>cAgp.R248QMissense_MutationSNPCTrs11540652OT43ENST00000269305.4-793226834999
esj6663TP537157OTSCCchr1775775397577539g.chr17:7577539G>Achr17:7577539-7577539c.742C>Tc.(742-744)Cgg>Tggp.R248WMissense_MutationSNPGArs397516437|rs121912651OT27ENST00000269305.4-793126834999
esj6664TP537157OTSCCchr1775775707577570g.chr17:7577570C>Tchr17:7577570-7577570c.711G>Ac.(709-711)atG>atAp.M237IMissense_MutationSNPCTrs587782664OT9ENST00000269305.4-790026834999
esj6665TP537157OTSCCchr1775775797577581g.chr17:7577579_7577581delGTAchr17:7577579-7577581c.700_702delTACc.(700-702)tacdelp.Y234delIn_Frame_DelDELGTA-rs587780073OT50ENST00000269305.4-7889_89126834999
esj6666TP537157OTSCCchr1775781907578190g.chr17:7578190T>Gchr17:7578190-7578190c.659A>Cc.(658-660)tAt>tCtp.Y220SMissense_MutationSNPTGrs121912666OT18ENST00000269305.4-684826834999
esj6667TP537157OTSCCchr1775782117578211g.chr17:7578211C>Achr17:7578211-7578211c.638G>Tc.(637-639)cGa>cTap.R213LMissense_MutationSNPCArs587778720OT24ENST00000269305.4-682726834999
esj6668TP537157OTSCCchr1775782127578212g.chr17:7578212G>Achr17:7578212-7578212c.637C>Tc.(637-639)Cga>Tgap.R213*Nonsense_MutationSNPGArs397516436OT6ENST00000269305.4-682626834999
esj6669TP537157OTSCCchr1775783957578395g.chr17:7578395G>Achr17:7578395-7578395c.535C>Tc.(535-537)Cat>Tatp.H179YMissense_MutationSNPGArs587780070OT23ENST00000269305.4-572426834999
esj6670TP537157OTSCCchr1775784067578406g.chr17:7578406C>Tchr17:7578406-7578406c.524G>Ac.(523-525)cGc>cAcp.R175HMissense_MutationSNPCTrs28934578OT25ENST00000269305.4-571326834999
esj6671TP537157OTSCCchr1775784627578463g.chr17:7578462_7578463insAchr17:7578462-7578463c.467_468insTc.(466-468)cgcfsp.R156fsFrame_Shift_InsINS-Ars371524413OT11ENST00000269305.4-5656_65726834999
esj6672TP537157OTSCCchr1775784757578475g.chr17:7578475G>Achr17:7578475-7578475c.455C>Tc.(454-456)cCg>cTgp.P152LMissense_MutationSNPGArs137852790|rs137852791|rs587782705OT55ENST00000269305.4-564426834999
esj6673TP537157OTSCCchr1775785247578524g.chr17:7578524G>Achr17:7578524-7578524c.406C>Tc.(406-408)Caa>Taap.Q136*Nonsense_MutationSNPGAOT22ENST00000269305.4-559526834999
esj6674TP537157OTSCCchr1775785327578532g.chr17:7578532A>Gchr17:7578532-7578532c.398T>Cc.(397-399)aTg>aCgp.M133TMissense_MutationSNPAGrs28934873OT40ENST00000269305.4-558726834999
esj6675TP537157OTSCCchr1775793917579391g.chr17:7579391G>Achr17:7579391-7579391c.296C>Tc.(295-297)tCc>tTcp.S99FMissense_MutationSNPGAOT54ENST00000269305.4-448526834999
esj10273TP537157OSCCchr1775797177579717g.chr17:7579717G>Achr17:7579717-7579717c.79C>Tc.(79-81)Cct>Tctp.P27SMissense_MutationSNP