[ensembl-dev] Ensembl VEP, Possible bug: 1000 genomes Phase 1 AFR_MAF is a weird large number

Will McLaren wm2 at ebi.ac.uk
Fri Aug 29 09:38:14 BST 2014


Hi Cyriac,

Thanks for spotting this, I've patched in a fix to the ensembl-variation
API module for this; you can retrieve it by rerunning the INSTALL.pl
script, or by updating your API checkout from GitHub.

The web code will also be updated shortly.

Regards

Will McLaren
Ensembl Variation


On 29 August 2014 00:24, Cyriac Kandoth <kandoth at cbio.mskcc.org> wrote:

> Hello,
>
> I discovered this using the standalone VEP script in offline mode, but was
> able to reproduce it in the online web-service as follows:
> http://grch37.ensembl.org/Homo_sapiens/Tools/VEP
>
> Input: chr7  140453136  140453136  A/T  +
> Select: 1000 Genomes continental allele frequencies
>
> Hit run, and in the output, AFR_MAF is reported as 21499247 which cannot
> be a minor allele frequency.
>
> Thanks,
> Cyriac
>
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