GVF2VCF GVF to VCF file converter (currently beta) The Genome Variation Format (GVF) is a file format for describing sequence variants at nucleotide resolution relative to a reference genome. GVF dumps are available from the Ensembl FTP site. However, many tools prefer to use the 1000 Genomes VCF format (e.g. Genome Analysis Toolkit), so a converter is often needed. This converter currently only supports output in VCF v4.0. Large, inexact structural variants will therefore be skipped (v4.1 of VCF now has support for these larger structural variants) NOTE only tested with Ensembl COSMIC GVF human genome annotation. No guarantees with other GVF files. Please let me know when you have problems with other GVFs. Contributions and updates are welcome as well as shared authorship. //www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call -format-version-40 //code.google.com/p/gvf2vcf/ //www.yandell-lab.org/software/VAAST_Quick-Start-Guide.pdf //www.broadinstitute.org/igv/VCF //www.broadinstitute.org/igv/viewing_vcf_files