[ensembl-dev] VEP - Multiple Effects

Hans Vasquez-Gross havasquezgross at ucdavis.edu
Mon Feb 9 23:34:33 GMT 2015


Hi All,

How are multiple effects for a given mutation assigned?  I have a colleague
that asked me about a VEP annotation for one of her genes of interest.

It was classified as a splice_region_variant&5_prime_UTR_variant.  If the
mutation was a splice_region_variant, we would be very interested in the
sample.  But if it is a 5' UTR variant, we will be less interested in the
mutation.  When visualizing the data, you can see this mutation occurs in
the 5' UTR (purple) and doesn't seem to confer any splice region variant.

[image: Inline image 1]


Any insight on how multiple effects are assigned would be helpful.  I
couldn't seem to find the info in the documentation.

Thank you,
-Hans
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