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expression_outlier_RV_format.md

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This is the format of the file created by get_rare_var_gene.sh

  • sample_id: sample ID
  • gene: gene name
  • expressionZScore: expression Zscore
  • variantPos: variant position
  • gnomadMAF: gnomAD allele frequency
  • raw_cadd: CADD score (raw)
  • phred_cadd: CADD score (phred)
  • variant_gene_pos: upstream/downstream - position of variant relative to the gene