Both VEP and ANNOVAR mark start losses but include the information regarding changes in the coding sequence and aminoacids.
For instance, the json from VEP with variant chr10 58224929 A G:
Would perhaps be nice to annotate these as regular annotations (Substitution, Insertion, Deletion), and then wrap them with a StartLoss in a property called alternate_effect the same way it happens for ExonicSpliceSite. Or just include aa_ref and aa_alt. (which is not that useful if the annotation has other consequences, like being a Frameshift or PrematureStop
Both VEP and ANNOVAR mark start losses but include the information regarding changes in the coding sequence and aminoacids. For instance, the json from VEP with variant
chr10 58224929 A G
:Would perhaps be nice to annotate these as regular annotations (
Substitution
,Insertion
,Deletion
), and then wrap them with aStartLoss
in a property calledalternate_effect
the same way it happens for ExonicSpliceSite. Or just includeaa_ref
andaa_alt.
(which is not that useful if the annotation has other consequences, like being aFrameshift
orPrematureStop