Result

Gene_Symbol:Gene symbol affected by the SAV
Sample_Name:Samples having the SAV
Mutation_Key:{chromosome},{position},{reference allele},{alternative allele}
Motif_Pos:The position of disrupted or newly created splicing motif ({chromosome}:{start}-{end})
Mutation_Type:Donor disruption, Acceptor disruption, Donor creation or Acceptor creation
Is_Canonical:Whether the SAV is affecting GT-AG canonical splicing motif, or not
Splicing_Key:The position of splicing junction (for Exon-skipping, Alternative 5’SS and Alternative 3’SS), or exon-intron boundary (for Intron retention)
Is_Inframe:Whether the new transcript generated by the SAV is inferred to be in-frame or not (non applicable for intron retention)
Supporting_Read_Num:
 The number of supporting reads for the transcript associated by the SAV
Score:The Averaged Bayes Factor for the SAV
Q_Value:Estimated false positive ratio by permutation