exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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custom VCF no gene/variant prioritized #494

Closed Nelhachem closed 1 year ago

Nelhachem commented 1 year ago

Hi,

Exomiser is a great tool! However, I have tried to make a custom vcf with < 5000 variants for a given sample. the columns of the VCF are CHROM, POS, ID, REF, ALT and the other QUAL, FILTER, INFO, FORMAT kept empty [.], SAMPLE name comes after FORMAT column. the file is saved in vcf format (tab delimited). The tool seems to run smoothly on linux cluster with no errors but I got this: Annotating variant records, trimming sequences and normalising positions... Processed 4500 variant records into 0 single allele variants! Loaded 0 variants - 0 passed variant filters

Any suggestions or potential solutions for custom VCF files? Your help is much needed to understand why I got this error?

Thanks

N.