[GET-dev] PGP1 COQ2-R22*

[Madeleine Price Ball]

When I download and process the "source data" file for PGP1 from:
http://snp.med.harvard.edu/results/job/20/George_Church

Using my own Trait-o-matic installation I get a prediction for this SNP:
chr4    SIQ2    SNP    84425028    84425028    .    +    .    alleles
A/T;ref_allele T
As causing the following nonsense mutation: COQ2-R22*

I don't see this prediction in the nsSNPs on snp.med, nor any other amino
acid change prediction made for this location, nor is it on Trait-o-matic.
But when I check UCSC it looks like a good prediction: AGA->TGA in the
reverse complement direction. What is going on? Why is my Trait-o-matic
producing output different from the website? Why is the website missing
this?

My initial guess is that they are/were using different refseq annotations?

  -- Madeleine
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