Additional file 23 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
Based on NEU1 cDNA sequence NM_000434.3. Numbers in brackets represent the p-value associated to the enrichment of SNVs in the corresponding exon calculated as described in Methods. Classification of
ANumbers reflect the number of miRNA binding sites, not the total number of miRNAs shown to bind to that location.BThe 3′ UTR of chicken is not known for this gene therefore the human 3′ UTR was utili
Additional file 3. List of exonic genetic variants called by Proton™ VC for the eleven tumor samples. All variants are annotated with the gene ID and locus RefSeq, and the mutation nomenclature is bas
