Mutation

Primary Site >> Liver Cancer

Gene >> BAP1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52407247:52407247(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.507C>G
AA Mutation	p.His169Gln(p.H169Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52406902:52406902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.586T>G
AA Mutation	p.Trp196Gly(p.W196G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52403529:52403529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1616T>A
AA Mutation	p.Leu539Gln(p.L539Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52407246:52407246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.508T>G
AA Mutation	p.Phe170Val(p.F170V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52406883:52406883(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.605G>T
AA Mutation	p.Trp202Leu(p.W202L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52408596:52408596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.133G>A
AA Mutation	p.Gly45Arg(p.G45R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000460680
Start	52405278:52405278(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776898908
CDS Mutation	c.948G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52407985:52407989(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.344_348delTGAAG
AA Mutation	p.Met115ArgfsTer9(p.M115Rfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52403885:52403885(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1260delG
AA Mutation	p.Lys421ArgfsTer9(p.K421Rfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52403440:52403440(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1705delG
AA Mutation	p.Val569CysfsTer2(p.V569Cfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52403786:52403787(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1358_1359delAA
AA Mutation	p.Lys453ArgfsTer15(p.K453Rfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52405858:52405858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.838C>T
AA Mutation	p.Gln280Ter(p.Q280*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52406279:52406279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.757C>T
AA Mutation	p.Gln253Ter(p.Q253*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52403779:52403779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1366C>T
AA Mutation	p.Gln456Ter(p.Q456*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52407288:52407288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.466C>T
AA Mutation	p.Gln156Ter(p.Q156*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52402347:52402347(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2131A>T
AA Mutation	p.Lys711Ter(p.K711*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52402623:52402624(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2034dupT
AA Mutation	p.Ile679TyrfsTer38(p.I679Yfs*38)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52402671:52402672(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1986dupT
AA Mutation	p.Asp663Ter(p.D663*)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52406326:52406327(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.667_709dupTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACC
AA Mutation	p.Arg237LeufsTer20(p.R237Lfs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	20
Mutation Consequence	splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID	ENST00000460680
Start	52402661:52402692(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1984-18_1997delTCTTCTTCTCTCCTACAGATTGATGACCAGAG
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	21
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000460680
Start	52407318:52407318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.438-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	22
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000460680
Start	52406324:52406332(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.704_712delCCGACCGCA
AA Mutation	p.Pro235_Arg237del(p.P235_R237del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	23
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000460680
Start	52407984:52408046(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.287_349delTGCTGAGCGTGCTCCTGAACTGCAGCAGCGTGGACCTGGGACCCACCCTGAGTCGCATGAAGG
AA Mutation	p.Leu96_Asp117delinsTyr(p.L96_D117delinsY)
Mutation Classification	In_Frame_Del
Feature Type	Transcript