HBCR Human BP Codon Resource Variant Annotation Pipeline @ MSeqDR

The HBCR: annotate and filter variants

The HBCR is a perl and MySQL program that functionally annotates variants. Predicted sequence changes are based on Ensembl gene models, and pathogenicity data is extracted from our curated database, and multiple sources including PolyPhen, SIFT, the dbNSFP resource, and the CADD: Combined Annotation Dependent Depletion scores. It supports input in HGVS, VCF (v.4 or above), or HBCR text formats

Option 1: Input Your Variant List

Input format: Text VCF HGVS
  Email   notice me when finished

Option 2: Upload Input File

Drag & Drop .txt, hgvs or .vcf File Here...

Files available:
   
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 Help file  sample input: Text VCF HGVS