RFPL4B
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA6112671146112671146+Missense_MutationSNPGGATCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr6:112671146G>Ac.236G>Ac.(235-237)cGa>cAap.R79Q
BLCA6112671523112671523+Missense_MutationSNPCCGTCGA-DK-A3WW-01A-22D-A23M-08TCGA-DK-A3WW-10A-01D-A23K-08g.chr6:112671523C>Gc.613C>Gc.(613-615)Cgc>Ggcp.R205G
BLCA6112671551112671561+Frame_Shift_DelDELACTTAGAAGAAACTTAGAAGAA-TCGA-G2-A3VY-01A-11D-A22Z-08TCGA-G2-A3VY-10A-01D-A22Z-08g.chr6:112671551_112671561delACTTAGAAGAAc.641_651delACTTAGAAGAAc.(640-651)gacttagaagaafsp.DLEE214fs
BLCA6112671645112671645+Missense_MutationSNPCCGTCGA-DK-A3IS-01A-21D-A21A-08TCGA-DK-A3IS-10A-01D-A21A-08g.chr6:112671645C>Gc.735C>Gc.(733-735)ttC>ttGp.F245L
BRCA6112671398112671398+Missense_MutationSNPGGATCGA-JL-A3YW-01A-12D-A23C-09TCGA-JL-A3YW-10B-01D-A23C-09g.chr6:112671398G>Ac.488G>Ac.(487-489)tGc>tAcp.C163Y
CESC6112671103112671103+Missense_MutationSNPCCATCGA-Q1-A73Q-01A-21D-A32I-09TCGA-Q1-A73Q-10B-01D-A32I-09g.chr6:112671103C>Ac.193C>Ac.(193-195)Caa>Aaap.Q65K
CESC6112671250112671250+Missense_MutationSNPCCGTCGA-EK-A3GK-01A-11D-A20U-09TCGA-EK-A3GK-10A-01D-A20U-09g.chr6:112671250C>Gc.340C>Gc.(340-342)Cta>Gtap.L114V
COAD6112671027112671027+Missense_MutationSNPAAGTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr6:112671027A>Gc.117A>Gc.(115-117)atA>atGp.I39M
COAD6112671031112671031+Nonsense_MutationSNPGGTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr6:112671031G>Tc.121G>Tc.(121-123)Gaa>Taap.E41*
COAD6112671296112671296+Missense_MutationSNPAAGTCGA-AY-6197-01A-11D-1719-10TCGA-AY-6197-10A-01D-1719-10g.chr6:112671296A>Gc.386A>Gc.(385-387)gAt>gGtp.D129G
COAD6112671308112671308+Missense_MutationSNPCCATCGA-AD-5900-01A-11D-1650-10TCGA-AD-5900-10A-01D-1650-10g.chr6:112671308C>Ac.398C>Ac.(397-399)gCc>gAcp.A133D
COAD6112671523112671523+Missense_MutationSNPCCTTCGA-AZ-5407-01A-01D-1719-10TCGA-AZ-5407-10A-01D-1719-10g.chr6:112671523C>Tc.613C>Tc.(613-615)Cgc>Tgcp.R205C
COAD6112671577112671577+Missense_MutationSNPGGATCGA-CK-5913-01A-11D-1650-10TCGA-CK-5913-10A-01D-1650-10g.chr6:112671577G>Ac.667G>Ac.(667-669)Gtt>Attp.V223I
COADREAD6112671027112671027+Missense_MutationSNPAAGTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr6:112671027A>Gc.117A>Gc.(115-117)atA>atGp.I39M
COADREAD6112671031112671031+Nonsense_MutationSNPGGTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr6:112671031G>Tc.121G>Tc.(121-123)Gaa>Taap.E41*
COADREAD6112671296112671296+Missense_MutationSNPAAGTCGA-AY-6197-01A-11D-1719-10TCGA-AY-6197-10A-01D-1719-10g.chr6:112671296A>Gc.386A>Gc.(385-387)gAt>gGtp.D129G
COADREAD6112671308112671308+Missense_MutationSNPCCATCGA-AD-5900-01A-11D-1650-10TCGA-AD-5900-10A-01D-1650-10g.chr6:112671308C>Ac.398C>Ac.(397-399)gCc>gAcp.A133D
COADREAD6112671465112671465+Missense_MutationSNPGGTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:112671465G>Tc.555G>Tc.(553-555)aaG>aaTp.K185N
COADREAD6112671523112671523+Missense_MutationSNPCCTTCGA-AZ-5407-01A-01D-1719-10TCGA-AZ-5407-10A-01D-1719-10g.chr6:112671523C>Tc.613C>Tc.(613-615)Cgc>Tgcp.R205C
COADREAD6112671544112671544+Missense_MutationSNPGGTTCGA-AG-3892-01A-01W-1073-09TCGA-AG-3892-10A-01W-1073-09g.chr6:112671544G>Tc.634G>Tc.(634-636)Gat>Tatp.D212Y
COADREAD6112671577112671577+Missense_MutationSNPGGATCGA-CK-5913-01A-11D-1650-10TCGA-CK-5913-10A-01D-1650-10g.chr6:112671577G>Ac.667G>Ac.(667-669)Gtt>Attp.V223I
GBM6112671523112671523+Missense_MutationSNPCCTTCGA-32-4209-01A-01D-1353-08TCGA-32-4209-10A-01D-1353-08g.chr6:112671523C>Tc.613C>Tc.(613-615)Cgc>Tgcp.R205C
GBMLGG6112671523112671523+Missense_MutationSNPCCTTCGA-32-4209-01A-01D-1353-08TCGA-32-4209-10A-01D-1353-08g.chr6:112671523C>Tc.613C>Tc.(613-615)Cgc>Tgcp.R205C
HNSC6112671163112671163+Missense_MutationSNPCCATCGA-DQ-5629-01A-01D-1870-08TCGA-DQ-5629-10A-01D-1870-08g.chr6:112671163C>Ac.253C>Ac.(253-255)Cac>Aacp.H85N
HNSC6112671180112671180+SilentSNPCCGTCGA-CQ-5326-01A-01D-1870-08TCGA-CQ-5326-10A-01D-1870-08g.chr6:112671180C>Gc.270C>Gc.(268-270)ctC>ctGp.L90L
HNSC6112671295112671295+Missense_MutationSNPGGTTCGA-CV-6960-01A-41D-2012-08TCGA-CV-6960-10A-01D-2013-08g.chr6:112671295G>Tc.385G>Tc.(385-387)Gat>Tatp.D129Y
HNSC6112671339112671339+SilentSNPCCTTCGA-BA-A6DB-01A-11D-A30E-08TCGA-BA-A6DB-10A-01D-A30H-08g.chr6:112671339C>Tc.429C>Tc.(427-429)tcC>tcTp.S143S
HNSC6112671407112671407+Missense_MutationSNPCCATCGA-CV-6960-01A-41D-2012-08TCGA-CV-6960-10A-01D-2013-08g.chr6:112671407C>Ac.497C>Ac.(496-498)cCg>cAgp.P166Q
HNSC6112671535112671536+Frame_Shift_InsINS--TTCGA-CN-4730-01A-01D-1434-08TCGA-CN-4730-10A-01D-1434-08g.chr6:112671535_112671536insTc.625_626insTc.(625-627)attfsp.I209fs
HNSC6112671570112671570+SilentSNPTTCTCGA-CV-7424-01A-11D-2078-08TCGA-CV-7424-10A-01D-2078-08g.chr6:112671570T>Cc.660T>Cc.(658-660)ttT>ttCp.F220F
KIPAN6112671198112671198+SilentSNPTTCTCGA-CZ-5989-01A-11D-1669-08TCGA-CZ-5989-11A-01D-1669-08g.chr6:112671198T>Cc.288T>Cc.(286-288)gaT>gaCp.D96D
KIRC6112671198112671198+SilentSNPTTCTCGA-CZ-5989-01A-11D-1669-08TCGA-CZ-5989-11A-01D-1669-08g.chr6:112671198T>Cc.288T>Cc.(286-288)gaT>gaCp.D96D
LIHC6112671285112671285+Missense_MutationSNPTTATCGA-DD-A4NV-01A-11D-A30V-10TCGA-DD-A4NV-10A-01D-A30V-10g.chr6:112671285T>Ac.375T>Ac.(373-375)gaT>gaAp.D125E
LIHC6112671556112671556+Frame_Shift_DelDELGG-TCGA-UB-A7MB-01A-11D-A33Q-10TCGA-UB-A7MB-10A-01D-A33Q-10g.chr6:112671556delGc.646delGc.(646-648)gaafsp.E217fs
LUAD6112671283112671283+Missense_MutationSNPGGTTCGA-64-5781-01A-01D-1625-08TCGA-64-5781-10A-01D-1625-08g.chr6:112671283G>Tc.373G>Tc.(373-375)Gat>Tatp.D125Y
LUAD6112671568112671568+Frame_Shift_DelDELTT-TCGA-55-A492-01A-11D-A24D-08TCGA-55-A492-10A-01D-A24F-08g.chr6:112671568delTc.658delTc.(658-660)tttfsp.F221fs
LUAD6112671585112671585+Missense_MutationSNPTTATCGA-05-4422-01A-01D-1265-08TCGA-05-4422-10A-01D-1265-08g.chr6:112671585T>Ac.675T>Ac.(673-675)aaT>aaAp.N225K
LUAD6112671606112671606+SilentSNPTTCTCGA-55-8506-01A-11D-2393-08TCGA-55-8506-10A-01D-2393-08g.chr6:112671606T>Cc.696T>Cc.(694-696)caT>caCp.H232H
LUSC6112671180112671180+SilentSNPCCGTCGA-66-2794-01A-01D-1267-08TCGA-66-2794-11A-01D-1267-08g.chr6:112671180C>Gc.270C>Gc.(268-270)ctC>ctGp.L90L
LUSC6112671478112671478+Missense_MutationSNPCCGTCGA-66-2782-01A-01D-1522-08TCGA-66-2782-11A-01D-1522-08g.chr6:112671478C>Gc.568C>Gc.(568-570)Cat>Gatp.H190D
LUSC6112671663112671663+SilentSNPAAGTCGA-60-2698-01A-01D-1522-08TCGA-60-2698-11A-01D-1522-08g.chr6:112671663A>Gc.753A>Gc.(751-753)ggA>ggGp.G251G
PAAD6112671386112671386+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr6:112671386C>Tc.476C>Tc.(475-477)tCc>tTcp.S159F
PRAD6112671564112671564+SilentSNPCCATCGA-4L-AA1F-01A-11D-A41K-08TCGA-4L-AA1F-10A-01D-A41N-08g.chr6:112671564C>Ac.654C>Ac.(652-654)atC>atAp.I218I
PRAD6112671567112671568+Frame_Shift_InsINS--TTCGA-EJ-A8FS-01A-11D-A34U-08TCGA-EJ-A8FS-10A-01D-A34X-08g.chr6:112671567_112671568insTc.657_658insTc.(658-660)tttfsp.F220fs
READ6112671465112671465+Missense_MutationSNPGGTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr6:112671465G>Tc.555G>Tc.(553-555)aaG>aaTp.K185N
READ6112671544112671544+Missense_MutationSNPGGTTCGA-AG-3892-01A-01W-1073-09TCGA-AG-3892-10A-01W-1073-09g.chr6:112671544G>Tc.634G>Tc.(634-636)Gat>Tatp.D212Y
SKCM6112671068112671068+Missense_MutationSNPGGATCGA-EE-A29M-06A-11D-A196-08TCGA-EE-A29M-10A-01D-A198-08g.chr6:112671068G>Ac.158G>Ac.(157-159)cGa>cAap.R53Q
SKCM6112671175112671175+Missense_MutationSNPGGATCGA-FS-A4FD-06A-11D-A25O-08TCGA-FS-A4FD-10B-01D-A25O-08g.chr6:112671175G>Ac.265G>Ac.(265-267)Gag>Aagp.E89K
SKCM6112671178112671178+Missense_MutationSNPCCTTCGA-EE-A3AG-06A-31D-A196-08TCGA-EE-A3AG-10A-01D-A198-08g.chr6:112671178C>Tc.268C>Tc.(268-270)Ctc>Ttcp.L90F
SKCM6112671283112671283+Missense_MutationSNPGGATCGA-EE-A2MI-06A-11D-A197-08TCGA-EE-A2MI-10A-01D-A199-08g.chr6:112671283G>Ac.373G>Ac.(373-375)Gat>Aatp.D125N
SKCM6112671372112671372+SilentSNPGGATCGA-EE-A2GR-06A-11D-A197-08TCGA-EE-A2GR-10A-01D-A199-08g.chr6:112671372G>Ac.462G>Ac.(460-462)gaG>gaAp.E154E
SKCM6112671435112671435+SilentSNPCCTTCGA-EE-A2GC-06A-11D-A197-08TCGA-EE-A2GC-10A-01D-A199-08g.chr6:112671435C>Tc.525C>Tc.(523-525)ttC>ttTp.F175F
SKCM6112671667112671667+Missense_MutationSNPGGATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr6:112671667G>Ac.757G>Ac.(757-759)Ggg>Aggp.G253R
SKCM6112671701112671701+SilentSNPGGATCGA-EE-A29D-06A-11D-A197-08TCGA-EE-A29D-10A-01D-A199-08g.chr6:112671701G>Ac.791G>Ac.(790-792)tGa>tAap.*264*
SKCM6112671701112671701+SilentSNPGGATCGA-RP-A693-06A-13D-A30X-08TCGA-RP-A693-10A-01D-A30X-08g.chr6:112671701G>Ac.791G>Ac.(790-792)tGa>tAap.*264*
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US6112671523112671523single base substitutionCGmissense_variantR205G613C>G
BLCA-US6112671551112671561deletion of <=200bpACTTAGAAGAA-frameshift_variantDLEE214
BLCA-US6112671645112671645single base substitutionCGmissense_variantF245L735C>G
BRCA-EU6112663563112663563single base substitutionCTupstream_gene_variant
BRCA-EU6112663946112663946single base substitutionATupstream_gene_variant
BRCA-EU6112664066112664066single base substitutionAGupstream_gene_variant
BRCA-EU6112667234112667234single base substitutionCTupstream_gene_variant
BRCA-EU6112667351112667351single base substitutionTGupstream_gene_variant
BRCA-EU6112667454112667454single base substitutionTGupstream_gene_variant
BRCA-EU6112668342112668342single base substitutionGCupstream_gene_variant
BRCA-EU6112668531112668531single base substitutionCTupstream_gene_variant
BRCA-EU6112668747112668747single base substitutionCTintron_variant
BRCA-EU6112669036112669036single base substitutionCTintron_variant
BRCA-EU6112669246112669246single base substitutionTCintron_variant
BRCA-EU6112669488112669488single base substitutionGAintron_variant
BRCA-EU6112669923112669923single base substitutionGTintron_variant
BRCA-EU6112670044112670044single base substitutionGAintron_variant
BRCA-EU6112670600112670600single base substitutionCTintron_variant
BRCA-EU6112670655112670655single base substitutionTCintron_variant
BRCA-EU6112671989112671989single base substitutionGC3_prime_UTR_variant
BRCA-EU6112672323112672323single base substitutionAG3_prime_UTR_variant
BRCA-EU6112673338112673338single base substitutionGCdownstream_gene_variant
BRCA-EU6112673339112673339single base substitutionGTdownstream_gene_variant
BRCA-EU6112674636112674636single base substitutionGCdownstream_gene_variant
BRCA-EU6112674860112674860single base substitutionATdownstream_gene_variant
BRCA-EU6112675727112675727single base substitutionCGdownstream_gene_variant
BRCA-EU6112676888112676888single base substitutionCGdownstream_gene_variant
BRCA-FR6112663946112663946single base substitutionATupstream_gene_variant
BRCA-FR6112669923112669923single base substitutionGTintron_variant
BRCA-FR6112670600112670600single base substitutionCTintron_variant
BRCA-FR6112676825112676825single base substitutionTCdownstream_gene_variant
BRCA-UK6112670641112670641single base substitutionCGintron_variant
BRCA-UK6112672323112672323single base substitutionAG3_prime_UTR_variant
BRCA-UK6112674636112674636single base substitutionGCdownstream_gene_variant
BRCA-US6112671398112671398single base substitutionGAmissense_variantC163Y488G>A
CESC-US6112671103112671103single base substitutionCAmissense_variantQ65K193C>A
CESC-US6112671250112671250single base substitutionCGmissense_variantL114V340C>G
COAD-US6112671027112671027single base substitutionAGmissense_variantI39M117A>G
COAD-US6112671031112671031single base substitutionGTstop_gainedE41*121G>T
COAD-US6112671296112671296single base substitutionAGmissense_variantD129G386A>G
COAD-US6112671308112671308single base substitutionCAmissense_variantA133D398C>A
COAD-US6112671523112671523single base substitutionCTmissense_variantR205C613C>T
COAD-US6112671577112671577single base substitutionGAmissense_variantV223I667G>A
COCA-CN6112671051112671051single base substitutionGAsynonymous_variantA47A141G>A
COCA-CN6112671310112671310single base substitutionTGmissense_variantC134G400T>G
ESAD-UK6112663666112663666single base substitutionAGupstream_gene_variant
ESAD-UK6112664189112664189single base substitutionTGupstream_gene_variant
ESAD-UK6112664488112664488single base substitutionTGupstream_gene_variant
ESAD-UK6112664803112664803single base substitutionTGupstream_gene_variant
ESAD-UK6112667005112667005single base substitutionACupstream_gene_variant
ESAD-UK6112667196112667196single base substitutionACupstream_gene_variant
ESAD-UK6112668113112668113single base substitutionAGupstream_gene_variant
ESAD-UK6112668572112668572single base substitutionGA5_prime_UTR_variant
ESAD-UK6112668662112668662single base substitutionCAintron_variant
ESAD-UK6112669349112669349deletion of <=200bpT-intron_variant
ESAD-UK6112669625112669625single base substitutionAGintron_variant
ESAD-UK6112669626112669626single base substitutionACintron_variant
ESAD-UK6112670132112670132deletion of <=200bpT-intron_variant
ESAD-UK6112670691112670693deletion of <=200bpTTG-intron_variant
ESAD-UK6112671377112671377single base substitutionATmissense_variantK156M467A>T
ESAD-UK6112671409112671409single base substitutionGTmissense_variantA167S499G>T
ESAD-UK6112671712112671712single base substitutionCA3_prime_UTR_variant
ESAD-UK6112671887112671887single base substitutionGT3_prime_UTR_variant
ESAD-UK6112672045112672045single base substitutionTG3_prime_UTR_variant
ESAD-UK6112672747112672747single base substitutionTAdownstream_gene_variant
ESAD-UK6112672883112672883single base substitutionTGdownstream_gene_variant
ESAD-UK6112673570112673570single base substitutionACdownstream_gene_variant
ESAD-UK6112673612112673612single base substitutionAGdownstream_gene_variant
ESAD-UK6112673762112673762single base substitutionACdownstream_gene_variant
ESAD-UK6112674391112674391single base substitutionGAdownstream_gene_variant
ESAD-UK6112674448112674448single base substitutionACdownstream_gene_variant
ESAD-UK6112674706112674706single base substitutionTGdownstream_gene_variant
ESAD-UK6112674860112674860deletion of <=200bpA-downstream_gene_variant
ESAD-UK6112675295112675295single base substitutionTCdownstream_gene_variant
ESAD-UK6112675313112675313single base substitutionTGdownstream_gene_variant
ESAD-UK6112675957112675957single base substitutionTGdownstream_gene_variant
ESAD-UK6112676085112676085single base substitutionACdownstream_gene_variant
ESAD-UK6112676706112676706single base substitutionCTdownstream_gene_variant
ESAD-UK6112676750112676750single base substitutionCAdownstream_gene_variant
ESAD-UK6112676811112676811single base substitutionGAdownstream_gene_variant
ESAD-UK6112676917112676917single base substitutionACdownstream_gene_variant
ESAD-UK6112677004112677004single base substitutionACdownstream_gene_variant
GBM-US6112671523112671523single base substitutionCTmissense_variantR205C613C>T
KIRC-US6112671198112671198single base substitutionTCsynonymous_variantD96D288T>C
LAML-KR6112671611112671611single base substitutionGAmissense_variantG234D701G>A
LICA-FR6112671534112671534single base substitutionATsynonymous_variantG208G624A>T
LICA-FR6112671696112671696single base substitutionCTsynonymous_variantC262C786C>T
LIHC-US6112671285112671285single base substitutionTAmissense_variantD125E375T>A
LIHC-US6112671556112671556deletion of <=200bpG-frameshift_variantE216
LINC-JP6112668694112668694single base substitutionAGintron_variant
LINC-JP6112671229112671229single base substitutionCAmissense_variantL107I319C>A
LINC-JP6112671272112671272single base substitutionAGmissense_variantK121R362A>G
LIRI-JP6112663978112663978single base substitutionAGupstream_gene_variant
LIRI-JP6112666195112666195single base substitutionTCupstream_gene_variant
LIRI-JP6112667328112667328single base substitutionAGupstream_gene_variant
LIRI-JP6112669857112669857single base substitutionAGintron_variant
LIRI-JP6112670641112670641single base substitutionCTintron_variant
LIRI-JP6112670666112670666single base substitutionCAintron_variant
LIRI-JP6112671808112671808single base substitutionTA3_prime_UTR_variant
LIRI-JP6112672585112672585single base substitutionCTdownstream_gene_variant
LIRI-JP6112673019112673019single base substitutionAGdownstream_gene_variant
LUSC-KR6112663801112663801single base substitutionCAupstream_gene_variant
LUSC-KR6112664772112664772single base substitutionCAupstream_gene_variant
LUSC-KR6112666484112666484single base substitutionTAupstream_gene_variant
LUSC-KR6112666866112666866single base substitutionCAupstream_gene_variant
LUSC-KR6112667148112667148single base substitutionAGupstream_gene_variant
LUSC-KR6112667785112667785single base substitutionGTupstream_gene_variant
LUSC-KR6112668739112668739single base substitutionGAintron_variant
LUSC-KR6112668925112668925single base substitutionGAintron_variant
LUSC-US6112671180112671180single base substitutionCGsynonymous_variantL90L270C>G
LUSC-US6112671478112671478single base substitutionCGmissense_variantH190D568C>G
LUSC-US6112671663112671663single base substitutionAGsynonymous_variantG251G753A>G
MALY-DE6112665870112665870single base substitutionTAupstream_gene_variant
MALY-DE6112668117112668117single base substitutionTCupstream_gene_variant
MALY-DE6112668523112668523single base substitutionGAupstream_gene_variant
MALY-DE6112674288112674288single base substitutionAGdownstream_gene_variant
MELA-AU6112663899112663899single base substitutionGAupstream_gene_variant
MELA-AU6112663942112663942single base substitutionGAupstream_gene_variant
MELA-AU6112664154112664154single base substitutionGAupstream_gene_variant
MELA-AU6112664579112664579single base substitutionCTupstream_gene_variant
MELA-AU6112664700112664700single base substitutionCTupstream_gene_variant
MELA-AU6112664711112664711single base substitutionGAupstream_gene_variant
MELA-AU6112664879112664879single base substitutionCTupstream_gene_variant
MELA-AU6112665341112665341single base substitutionGAupstream_gene_variant
MELA-AU6112665560112665560single base substitutionGAupstream_gene_variant
MELA-AU6112665589112665589single base substitutionGAupstream_gene_variant
MELA-AU6112665813112665813single base substitutionCTupstream_gene_variant
MELA-AU6112665823112665823single base substitutionCTupstream_gene_variant
MELA-AU6112666632112666632single base substitutionCTupstream_gene_variant
MELA-AU6112666820112666820single base substitutionGAupstream_gene_variant
MELA-AU6112666927112666927single base substitutionGAupstream_gene_variant
MELA-AU6112666999112666999single base substitutionGAupstream_gene_variant
MELA-AU6112667229112667229single base substitutionCTupstream_gene_variant
MELA-AU6112667485112667485single base substitutionAGupstream_gene_variant
MELA-AU6112667603112667603single base substitutionCTupstream_gene_variant
MELA-AU6112667822112667822single base substitutionGAupstream_gene_variant
MELA-AU6112667917112667917single base substitutionCTupstream_gene_variant
MELA-AU6112667918112667918single base substitutionCTupstream_gene_variant
MELA-AU6112668158112668158single base substitutionCTupstream_gene_variant
MELA-AU6112668329112668329single base substitutionACupstream_gene_variant
MELA-AU6112668592112668592single base substitutionGA5_prime_UTR_variant
MELA-AU6112668726112668726single base substitutionCTintron_variant
MELA-AU6112668727112668727single base substitutionCTintron_variant
MELA-AU6112669056112669056single base substitutionACintron_variant
MELA-AU6112669084112669084single base substitutionGAintron_variant
MELA-AU6112669296112669296single base substitutionCTintron_variant
MELA-AU6112669334112669334single base substitutionTGintron_variant
MELA-AU6112669661112669661single base substitutionGAintron_variant
MELA-AU6112670063112670063single base substitutionCTintron_variant
MELA-AU6112670561112670561single base substitutionCTintron_variant
MELA-AU6112670678112670678single base substitutionATintron_variant
MELA-AU6112670835112670835single base substitutionGA5_prime_UTR_variant
MELA-AU6112671059112671059single base substitutionCTmissense_variantP50L149C>T
MELA-AU6112671085112671085single base substitutionCAmissense_variantP59T175C>A
MELA-AU6112671182112671182single base substitutionGAmissense_variantR91Q272G>A
MELA-AU6112671283112671283single base substitutionGAmissense_variantD125N373G>A
MELA-AU6112671315112671315single base substitutionCTsynonymous_variantV135V405C>T
MELA-AU6112671410112671410single base substitutionCTmissense_variantA167V500C>T
MELA-AU6112671645112671645single base substitutionCTsynonymous_variantF245F735C>T
MELA-AU6112671873112671873single base substitutionAC3_prime_UTR_variant
MELA-AU6112672106112672106single base substitutionCT3_prime_UTR_variant
MELA-AU6112672212112672212single base substitutionGA3_prime_UTR_variant
MELA-AU6112672348112672348single base substitutionCT3_prime_UTR_variant
MELA-AU6112672446112672446single base substitutionGA3_prime_UTR_variant
MELA-AU6112672654112672654single base substitutionCTdownstream_gene_variant
MELA-AU6112672914112672914single base substitutionGAdownstream_gene_variant
MELA-AU6112673125112673125single base substitutionATdownstream_gene_variant
MELA-AU6112673270112673270single base substitutionGAdownstream_gene_variant
MELA-AU6112673441112673441single base substitutionCTdownstream_gene_variant
MELA-AU6112674106112674106single base substitutionGAdownstream_gene_variant
MELA-AU6112674151112674151single base substitutionGAdownstream_gene_variant
MELA-AU6112674311112674311single base substitutionGAdownstream_gene_variant
MELA-AU6112674380112674380single base substitutionGAdownstream_gene_variant
MELA-AU6112674396112674396single base substitutionCTdownstream_gene_variant
MELA-AU6112674569112674569single base substitutionCTdownstream_gene_variant
MELA-AU6112674576112674576single base substitutionGAdownstream_gene_variant
MELA-AU6112674585112674585single base substitutionGAdownstream_gene_variant
MELA-AU6112674768112674768single base substitutionCTdownstream_gene_variant
MELA-AU6112674896112674896single base substitutionGAdownstream_gene_variant
MELA-AU6112675375112675375single base substitutionCAdownstream_gene_variant
MELA-AU6112675452112675452single base substitutionCTdownstream_gene_variant
MELA-AU6112675480112675480single base substitutionCTdownstream_gene_variant
MELA-AU6112675488112675488single base substitutionGAdownstream_gene_variant
MELA-AU6112675906112675906single base substitutionGAdownstream_gene_variant
MELA-AU6112676137112676137single base substitutionCTdownstream_gene_variant
MELA-AU6112676193112676193single base substitutionCTdownstream_gene_variant
MELA-AU6112676615112676615single base substitutionCTdownstream_gene_variant
MELA-AU6112676642112676642single base substitutionTCdownstream_gene_variant
MELA-AU6112676675112676675single base substitutionGAdownstream_gene_variant
MELA-AU6112676877112676877single base substitutionGAdownstream_gene_variant
MELA-AU6112677088112677088single base substitutionGAdownstream_gene_variant
MELA-AU6112677270112677270single base substitutionGAdownstream_gene_variant
ORCA-IN6112671207112671207single base substitutionGAsynonymous_variantL99L297G>A
OV-AU6112664132112664132single base substitutionCTupstream_gene_variant
OV-AU6112666502112666502single base substitutionAGupstream_gene_variant
OV-AU6112668141112668141single base substitutionGTupstream_gene_variant
OV-AU6112675493112675493single base substitutionGAdownstream_gene_variant
PACA-AU6112666977112666977single base substitutionGAupstream_gene_variant
PACA-AU6112669650112669650single base substitutionGAintron_variant
PACA-AU6112670601112670601single base substitutionGAintron_variant
PACA-AU6112671072112671072single base substitutionCTsynonymous_variantD54D162C>T
PACA-AU6112671166112671166single base substitutionGAmissense_variantV86M256G>A
PACA-AU6112674245112674245single base substitutionAGdownstream_gene_variant
PACA-CA6112668521112668521single base substitutionGAupstream_gene_variant
PACA-CA6112668572112668572single base substitutionGA5_prime_UTR_variant
PACA-CA6112671755112671755single base substitutionTC3_prime_UTR_variant
PACA-CA6112674350112674350single base substitutionGTdownstream_gene_variant
PACA-CA6112676760112676760single base substitutionGAdownstream_gene_variant
PACA-CA6112677268112677268single base substitutionCGdownstream_gene_variant
PAEN-AU6112669442112669442single base substitutionTAintron_variant
PAEN-IT6112672688112672688single base substitutionGAdownstream_gene_variant
PBCA-DE6112670600112670600single base substitutionCTintron_variant
PRAD-CA6112669110112669110single base substitutionAGintron_variant
PRAD-UK6112665003112665003single base substitutionAGupstream_gene_variant
PRAD-UK6112666991112666991single base substitutionGAupstream_gene_variant
PRAD-UK6112674832112674832single base substitutionATdownstream_gene_variant
RECA-EU6112667918112667918single base substitutionCGupstream_gene_variant
SKCA-BR6112666461112666461single base substitutionCTupstream_gene_variant
SKCA-BR6112666531112666531single base substitutionGAupstream_gene_variant
SKCA-BR6112666578112666578single base substitutionCTupstream_gene_variant
SKCA-BR6112666959112666959single base substitutionGAupstream_gene_variant
SKCA-BR6112667750112667750single base substitutionGAupstream_gene_variant
SKCA-BR6112669303112669303single base substitutionGAintron_variant
SKCA-BR6112670249112670249single base substitutionGAintron_variant
SKCA-BR6112670524112670524single base substitutionGAsplice_donor_variant
SKCA-BR6112672526112672526single base substitutionCTdownstream_gene_variant
SKCA-BR6112672611112672611single base substitutionCTdownstream_gene_variant
SKCA-BR6112673147112673147single base substitutionGAdownstream_gene_variant
SKCA-BR6112675240112675240single base substitutionCTdownstream_gene_variant
SKCA-BR6112676413112676413single base substitutionGAdownstream_gene_variant
SKCA-BR6112677390112677390single base substitutionTCdownstream_gene_variant
SKCM-US6112671068112671068single base substitutionGAmissense_variantR53Q158G>A
SKCM-US6112671175112671175single base substitutionGAmissense_variantE89K265G>A
SKCM-US6112671178112671178single base substitutionCTmissense_variantL90F268C>T
SKCM-US6112671372112671372single base substitutionGAsynonymous_variantE154E462G>A
SKCM-US6112671403112671403single base substitutionGAmissense_variantE165K493G>A
SKCM-US6112671435112671435single base substitutionCTsynonymous_variantF175F525C>T
SKCM-US6112671667112671667single base substitutionGAmissense_variantG253R757G>A
SKCM-US6112671701112671701single base substitutionGAstop_retained_variant*264*791G>A
STAD-US6112670980112670980single base substitutionCGmissense_variantL24V70C>G
STAD-US6112670995112670995single base substitutionGAmissense_variantV29M85G>A
STAD-US6112671189112671189single base substitutionTCsynonymous_variantF93F279T>C
STAD-US6112671190112671190single base substitutionCTmissense_variantR94W280C>T
STAD-US6112671377112671377single base substitutionACmissense_variantK156T467A>C
STAD-US6112671505112671505single base substitutionCAmissense_variantP199T595C>A
STAD-US6112671628112671628single base substitutionCGmissense_variantL240V718C>G
THCA-SA6112671611112671611single base substitutionGAmissense_variantG234D701G>A
THCA-SA6112672155112672155single base substitutionCA3_prime_UTR_variant
UCEC-US6112671146112671146single base substitutionGAmissense_variantR79Q236G>A
UCEC-US6112671283112671283single base substitutionGAmissense_variantD125N373G>A
UCEC-US6112671427112671427single base substitutionGAmissense_variantD173N517G>A
UCEC-US6112671441112671441single base substitutionGAsynonymous_variantE177E531G>A
UCEC-US6112671461112671461single base substitutionTCmissense_variantM184T551T>C
UCEC-US6112671668112671668single base substitutionGAmissense_variantG253E758G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
LN18COSM3156840c.493G>Tp.E165*Substitution - Nonsense6:112350201-112350201+
CHC1744TCOSM4792315c.786C>Tp.C262CSubstitution - coding silent6:112350494-112350494+
ESO-0025COSM1264044c.467A>Gp.K156RSubstitution - Missense6:112350175-112350175+
ESCC_45COSM5630409c.498G>Tp.P166PSubstitution - coding silent6:112350206-112350206+
449COSM3723349c.701G>Ap.G234DSubstitution - Missense6:112350409-112350409+
sysucc-311TCOSM4526785c.141G>Ap.A47ASubstitution - coding silent6:112349849-112349849+
TCGA-RP-A693-06COSM3619626c.791G>Ap.*264*Substitution - coding silent6:112350499-112350499+
ATL074COSM5709815c.637G>Tp.A213SSubstitution - Missense6:112350345-112350345+
TCGA-AZ-5407-01COSM1439903c.613C>Tp.R205CSubstitution - Missense6:112350321-112350321+
cSCCP4COSM138587c.280C>Tp.R94WSubstitution - Missense6:112349988-112349988+
TCGA-CG-4466-01COSM3857693c.718C>Gp.L240VSubstitution - Missense6:112350426-112350426+
LP6005334-DNA_E03COSM4412888c.499G>Tp.A167SSubstitution - Missense6:112350207-112350207+
TCGA-D1-A17Q-01COSM1072305c.517G>Ap.D173NSubstitution - Missense6:112350225-112350225+
TCGA-AP-A056-01COSM1072308c.758G>Ap.G253ESubstitution - Missense6:112350466-112350466+
TCGA-EE-A29M-06COSM3619620c.158G>Ap.R53QSubstitution - Missense6:112349866-112349866+
TCGA-AY-6197-01COSM1439901c.386A>Gp.D129GSubstitution - Missense6:112350094-112350094+
CSCC-31-TCOSM4454957c.624A>Tp.G208GSubstitution - coding silent6:112350332-112350332+
TCGA-AP-A0LM-01COSM1072303c.236G>Ap.R79QSubstitution - Missense6:112349944-112349944+
HCC2998COSM593887c.157C>Tp.R53*Substitution - Nonsense6:112349865-112349865+
TCGA-AZ-4315-01COSM1439899c.117A>Gp.I39MSubstitution - Missense6:112349825-112349825+
ESCC_129COSM5641966c.356G>Tp.C119FSubstitution - Missense6:112350064-112350064+
TCGA-JL-A3YW-01COSM3828852c.488G>Ap.C163YSubstitution - Missense6:112350196-112350196+
TCGA-CD-8529-01COSM3156831c.70C>Gp.L24VSubstitution - Missense6:112349778-112349778+
1_PRE-TREATMENTCOSM1720247c.595C>Tp.P199SSubstitution - Missense6:112350303-112350303+
2492723COSM5720742c.184G>Ap.E62KSubstitution - Missense6:112349892-112349892+
16246COSM5617314c.393G>Ap.R131RSubstitution - coding silent6:112350101-112350101+
PT46COSM5928847c.733T>Ap.F245ISubstitution - Missense6:112350441-112350441+
TCGA-AZ-4315-01COSM1439900c.121G>Tp.E41*Substitution - Nonsense6:112349829-112349829+
CSCC-49-TCOSM4526785c.141G>Ap.A47ASubstitution - coding silent6:112349849-112349849+
631052COSM323040c.125A>Gp.N42SSubstitution - Missense6:112349833-112349833+
TCGA-BR-8289-01COSM3857692c.595C>Ap.P199TSubstitution - Missense6:112350303-112350303+
TCGA-66-2794-01COSM739587c.270C>Gp.L90LSubstitution - coding silent6:112349978-112349978+
CSCC-18-TCOSM4490620c.366C>Gp.I122MSubstitution - Missense6:112350074-112350074+
pfg181TCOSM4760210c.97G>Tp.D33YSubstitution - Missense6:112349805-112349805+
TCGA-BS-A0UM-01COSM1072307c.551T>Cp.M184TSubstitution - Missense6:112350259-112350259+
2492729COSM5727480c.321C>Tp.L107LSubstitution - coding silent6:112350029-112350029+
CHC902TCOSM4454957c.624A>Tp.G208GSubstitution - coding silent6:112350332-112350332+
PT40COSM1072304c.373G>Ap.D125NSubstitution - Missense6:112350081-112350081+
CSCC-49-TCOSM4543819c.344G>Ap.R115KSubstitution - Missense6:112350052-112350052+
HCC2998COSM593887c.157C>Tp.R53*Substitution - Nonsense6:112349865-112349865+
T3203COSM4721182c.621G>Tp.V207VSubstitution - coding silent6:112350329-112350329+
pfg043TCOSM4760211c.103A>Gp.I35VSubstitution - Missense6:112349811-112349811+
16461COSM5617313c.372C>Tp.H124HSubstitution - coding silent6:112350080-112350080+
HCC132COSM1620794c.362A>Gp.K121RSubstitution - Missense6:112350070-112350070+
2492722COSM5720742c.184G>Ap.E62KSubstitution - Missense6:112349892-112349892+
T55COSM4721181c.11G>Ap.R4HSubstitution - Missense6:112349719-112349719+
1_RESISTANTCOSM1720247c.595C>Tp.P199SSubstitution - Missense6:112350303-112350303+
353COSM396163c.219C>Ap.T73TSubstitution - coding silent6:112349927-112349927+
HCC101TCOSM1620793c.319C>Ap.L107ISubstitution - Missense6:112350027-112350027+
TCGA-FW-A3R5-06COSM3920606c.757G>Ap.G253RSubstitution - Missense6:112350465-112350465+
2492720COSM5720742c.184G>Ap.E62KSubstitution - Missense6:112349892-112349892+
8035681COSM3156834c.256G>Ap.V86MSubstitution - Missense6:112349964-112349964+
LN18COSM3156841c.494A>Tp.E165VSubstitution - Missense6:112350202-112350202+
CHC902TCOSM4454957c.624A>Tp.G208GSubstitution - coding silent6:112350332-112350332+
LUAD-S01357COSM387699c.584T>Ap.L195QSubstitution - Missense6:112350292-112350292+
HCC101COSM1620793c.319C>Ap.L107ISubstitution - Missense6:112350027-112350027+
TCGA-DK-A3WW-01COSM3777035c.613C>Gp.R205GSubstitution - Missense6:112350321-112350321+
CSCC-27-TCOSM4476313c.205C>Tp.L69LSubstitution - coding silent6:112349913-112349913+
PAPSPNCOSM5005237c.348C>Tp.S116SSubstitution - coding silent6:112350056-112350056+
CN-AML-08-TCOSM3723349c.701G>Ap.G234DSubstitution - Missense6:112350409-112350409+
SA065COSM213172c.481G>Ap.G161SSubstitution - Missense6:112350189-112350189+
35MCOSM5582329c.527C>Tp.P176LSubstitution - Missense6:112350235-112350235+
TCGA-CD-8535-01COSM3857691c.467A>Cp.K156TSubstitution - Missense6:112350175-112350175+
TCGA-BR-8682-01COSM138587c.280C>Tp.R94WSubstitution - Missense6:112349988-112349988+
OSCC-GB_00020111COSM3715299c.297G>Ap.L99LSubstitution - coding silent6:112350005-112350005+
TCGA-EK-A3GK-01COSM4853042c.340C>Gp.L114VSubstitution - Missense6:112350048-112350048+
TCGA-EE-A2GR-06COSM3619623c.462G>Ap.E154ESubstitution - coding silent6:112350170-112350170+
TCGA-CZ-5989-01COSM483293c.288T>Cp.D96DSubstitution - coding silent6:112349996-112349996+
TCGA-AD-5900-01COSM1439902c.398C>Ap.A133DSubstitution - Missense6:112350106-112350106+
CHC1744TCOSM4792315c.786C>Tp.C262CSubstitution - coding silent6:112350494-112350494+
8064637COSM3156832c.162C>Tp.D54DSubstitution - coding silent6:112349870-112349870+
LUAD-S01302COSM396163c.219C>Ap.T73TSubstitution - coding silent6:112349927-112349927+
2TCOSM3715299c.297G>Ap.L99LSubstitution - coding silent6:112350005-112350005+
HCC132TCOSM1620794c.362A>Gp.K121RSubstitution - Missense6:112350070-112350070+
PT48COSM5931886c.428C>Tp.S143FSubstitution - Missense6:112350136-112350136+
CSCC-27-TCOSM1720247c.595C>Tp.P199SSubstitution - Missense6:112350303-112350303+
TCGA-EE-A2GC-06COSM3619625c.525C>Tp.F175FSubstitution - coding silent6:112350233-112350233+
TCGA-AP-A056-01COSM1072304c.373G>Ap.D125NSubstitution - Missense6:112350081-112350081+
TCGA-DD-A4NV-01COSM4916390c.375T>Ap.D125ESubstitution - Missense6:112350083-112350083+
TCGA-FS-A1ZN-01COSM3619624c.493G>Ap.E165KSubstitution - Missense6:112350201-112350201+
2492721COSM5720742c.184G>Ap.E62KSubstitution - Missense6:112349892-112349892+
LUAD-S01357COSM387700c.586G>Ap.E196KSubstitution - Missense6:112350294-112350294+
CSCC-47-TCOSM4531937c.183G>Ap.L61LSubstitution - coding silent6:112349891-112349891+
TCGA-FS-A4FD-06COSM3619621c.265G>Ap.E89KSubstitution - Missense6:112349973-112349973+
Pat_28_BCOSM5869130c.727C>Tp.P243SSubstitution - Missense6:112350435-112350435+
TARGET-30-PANLETCOSM1287596c.527C>Ap.P176HSubstitution - Missense6:112350235-112350235+
CSCC-30-TCOSM4517769c.415_416CC>TTp.P139FSubstitution - Missense6:112350123-112350124+
TCGA-32-4209-01COSM1439903c.613C>Tp.R205CSubstitution - Missense6:112350321-112350321+
C089COSM5543394c.447G>Ap.E149ESubstitution - coding silent6:112350155-112350155+
TCGA-Q1-A73Q-01COSM4851027c.193C>Ap.Q65KSubstitution - Missense6:112349901-112349901+
TCGA-EE-A29D-06COSM3619626c.791G>Ap.*264*Substitution - coding silent6:112350499-112350499+
T578COSM4721183c.625A>Cp.I209LSubstitution - Missense6:112350333-112350333+
TCGA-AG-3892-01COSM257880c.634G>Tp.D212YSubstitution - Missense6:112350342-112350342+
S02328COSM5692160c.254A>Tp.H85LSubstitution - Missense6:112349962-112349962+
ATL085COSM5709814c.93C>Ap.C31*Substitution - Nonsense6:112349801-112349801+
YUGATORCOSM5404180c.56C>Tp.S19FSubstitution - Missense6:112349764-112349764+
CRC-06TCOSM5457220c.400T>Gp.C134GSubstitution - Missense6:112350108-112350108+
CSCC-2-TCOSM4483540c.270C>Tp.L90LSubstitution - coding silent6:112349978-112349978+
TCGA-B5-A11E-01COSM1072306c.531G>Ap.E177ESubstitution - coding silent6:112350239-112350239+
TCGA-DK-A3IS-01COSM1311485c.735C>Gp.F245LSubstitution - Missense6:112350443-112350443+
TCGA-BR-8589-01COSM3857690c.279T>Cp.F93FSubstitution - coding silent6:112349987-112349987+
T1COSM1072304c.373G>Ap.D125NSubstitution - Missense6:112350081-112350081+
TCGA-EE-A3AG-06COSM3619622c.268C>Tp.L90FSubstitution - Missense6:112349976-112349976+
TCGA-CK-5913-01COSM1439904c.667G>Ap.V223ISubstitution - Missense6:112350375-112350375+
TCGA-F1-6874-01COSM3857689c.85G>Ap.V29MSubstitution - Missense6:112349793-112349793+
PT37COSM5919097c.385G>Ap.D129NSubstitution - Missense6:112350093-112350093+
CN-AML-NR-08-DxCOSM3723349c.701G>Ap.G234DSubstitution - Missense6:112350409-112350409+
TCGA-60-2698-01COSM739584c.753A>Gp.G251GSubstitution - coding silent6:112350461-112350461+
49MCOSM5592849c.646G>Ap.E216KSubstitution - Missense6:112350354-112350354+
TCGA-66-2782-01COSM739585c.568C>Gp.H190DSubstitution - Missense6:112350276-112350276+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.4482646q21
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.K156Rc.467A>G6112671377ESCA
AGMissensep.N42Sc.125A>G6112671035SCLC
CAMissensep.H85Nc.253C>A6112671163HNSC
CAMissensep.P166Qc.497C>A6112671407HNSC
CAMissensep.P176Hc.527C>A6112671437NB
CGMissensep.F245Lc.735C>G6112671645BLCA
CGMissensep.H190Dc.568C>G6112671478LUSC
CGMissensep.L240Vc.718C>G6112671628STAD
CGMissensep.P50Ac.148C>G6112671058CM
CGSynonymousp.L90Lc.270C>G6112671180HNSC
CGSynonymousp.L90Lc.270C>G6112671180LUSC
CTMissensep.L90Fc.268C>T6112671178CM
CTMissensep.R205Cc.613C>T6112671523GBM
CTMissensep.S21Fc.62C>T6112670972CM
CTNonsensep.R53*c.157C>T6112671067LUAD
CTSynonymousp.F175Fc.525C>T6112671435CM
CTSynonymousp.F245Fc.735C>T6112671645CM
CTSynonymousp.H124Hc.372C>T6112671282NSCLC
GAMissensep.D125Nc.373G>A6112671283CM
GAMissensep.D129Nc.385G>A6112671295CM
GAMissensep.E165Kc.493G>A6112671403CM
GAMissensep.E217Kc.649G>A6112671559CM
GAMissensep.G161Sc.481G>A6112671391BRCA
GAMissensep.R53Qc.158G>A6112671068CM
GAMissensep.V29Mc.85G>A6112670995STAD
GASynonymousp.E154Ec.462G>A6112671372CM
GASynonymousp.L250Lc.750G>A6112671660CM
GASynonymousp.R131Rc.393G>A6112671303NSCLC
GTMissensep.D125Yc.373G>T6112671283LUAD
GTMissensep.D129Yc.385G>T6112671295HNSC
TAMissensep.N225Kc.675T>A6112671585LUAD
TCMissensep.M184Tc.551T>C6112671461UCEC
TCSynonymousp.D96Dc.288T>C6112671198RCCC
TCSynonymousp.F220Fc.660T>C6112671570HNSC
-TFrameshiftp.L211Pfs*4c.629dupT6112671536HNSC
TG3-UTRSNV.c.789+139T>G6112671838MM
TGMissensep.F236Vc.706T>G6112671616STAD