This is a test version of Biostars. For the public version, visit https://www.biostars.org.
Tool: Functional Annotation Of Variant Calls (Vcf Files)

Here is a simple script (based on java/groovy) that does the following things for variant calls:

  • Identifies parent gene segment (Exon/Intron/UTR)
  • translates related codons (and identifies missense mutations)
  • checks if variant is a known SNPs (dbSNP) or cancer-associated mutation (COSMIC)

Download links here: http://100bp.wordpress.com/2013/04/24/vcf-file-annotation/

The only prerequisite is an archive of refgene track (hg19) and latest (as of 2013) dbsnp/cosmic entries which goes with the distribution. Hope this will be useful

vcf functional-annotation dbsnp

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