Find SNPs in the exome from WGS data

Question

[jh]

Hello,

I have called variants in WGS data with GATK. Now I would like to filter out alla heterozygous SNPs in the exome and which genes they are present in.

The output should be structured:

chrom | position | GT (nucleotides) | gene

1 | 100 | A/T | geneA

1 | 200 | G/T | geneA

2 | 100 | A/C | geneB

Thanks for any help!

joanna

[jh]

Thanks a lot for the advice, VEP works great!

I can't figure out how to print the reference allele as a separate column.

Does anyone know?

Best

Answer 1

[andrew.j.skelton73]

You could use Ensembl's VEP to annotate all your filtered variants, then filter based off that. Alternatively, you could try Gemini, which would allow you to make complex and flexible queries around large sets of data (based on SQLite)

[DG]

I would highly recommend GEMINI (which you can use on VEP or SnpEff annotated VCF files). It will let you do family-wise queries and lots of different ways of slicing the data. But even for the simple case you describe I think you'll likely find all of the additional capabilities appealing.