zwdzwd / transvar

TransVar - multiway annotator for precision medicine

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convert variant annotations from TransVar into a basic MAF

zmiimz opened this issue · comments

I would like to have some (semi-official) translation table of TransVar annotated variant_class into MAF(Mutation Annotation Format) class. Could you consider to correct or/and add this preliminary info into TransVar documentation?

TransVar = MAF

3-UTRBlockSubstitution = 3'UTR
3-UTRDeletion = 3'UTR
3-UTRInsertion= 3'UTR
3-UTRSNV = 5'UTR
5-UTRBlockSubstitution = 5'UTR
5-UTRDeletion = 5'UTR
5-UTRInsertion = 5'UTR
5-UTRSNV = 5'UTR
CdsStartBlockSubstitution = Translation_Start_Site
CdsStartDeletion = Translation_Start_Site
CdsStartInsertion = Translation_Start_Site
CdsStartSNV = Translation_Start_Site
CdsStopBlockSubstitution = Nonsense_Mutation
CdsStopDeletion = Nonstop_Mutation
CdsStopInsertion = Nonsense_Mutation
CdsStopSNV = Silent
Frameshift = Frame_Shift_InDel # how to separate Frame_Shift_Del / Frame_Shift_Ins ?
InFrameDeletion = In_Frame_Del
InFrameInsertion = In_Frame_Ins
IntergenicBlockSubstitution = IGR
IntergenicDeletion = IGR
IntergenicInsertion = IGR
IntergenicSNV = IGR
IntronicBlockSubstitution = Intron
IntronicDeletion = Intron
IntronicInsertion = Intron
IntronicSNV = Intron
Missense = Missense_Mutation
MultiAAMissense = Missense_Mutation
Nonsense = Nonsense_Mutation
SpliceAcceptorBlockSubstitution = Splice_Site
SpliceAcceptorDeletion = Splice_Site
SpliceAcceptorInsertion = Splice_Site
SpliceAcceptorSNV = Splice_Site # or Splice_Region?
SpliceDonorBlockSubstitution = Splice_Site
SpliceDonorDeletion = Splice_Site
SpliceDonorInsertion = Splice_Site
SpliceDonorSNV = Splice_Site # or Splice_Region?
Synonymous = Silent
Unclassified = UNKNOWN
UnclassifiedBlockSubstitution = UNKNOWN
UnclassifiedDeletion = UNKNOWN

... and what about the following mutations? How to identify them in TransVar output?
5'Flank, 3'Flank, RNA, Targeted_Region, De_novo_Start_InFrame, De_novo_Start_OutOfFrame