[ensembl-dev] [VEP] build 37 X:38147029 C/T ref/alt mismatch

Sarah Hunt seh at ebi.ac.uk
Mon May 9 09:33:22 BST 2016


Hi Nikolas,

The reference base is taken from the input data,  so if you enter:

X 38147029 . C T . . .

'C' is taken as the reference.

Best wishes,

Sarah

On 07/05/2016 10:55, Nikolas Pontikos wrote:
> The build 37 reference says that the ref allele is T but VEP seems to 
> think the ref allele is C.
>
> http://grch37.ensembl.org/Homo_sapiens/Location/View?r=X%3A38147029-38147029
>
> http://grch37.ensembl.org/Homo_sapiens/Tools/VEP/Results?db=core;tl=EsPIGUsotU5cCbBz-1715935
>
> What's going on?
>
>
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