Contents of the output/ Directory

Running cisMuton creates output/<SAMPLE_NAME>/ under the working directory, which includes the following directories:

Directory Name Description
Muton/ cisMuton output
Param/ Parameter information
Session/ Session information
ReadQC/ Statistical summaries for Read QC
Report/ Report

Muton/ contains the following files and a directory:

File Name Description
muton_wgenome.vcf VCF file for called variants
<SAMPLE_NAME>.ciscall.mem.bam BAM file
<SAMPLE_NAME>.ciscall.mem.bam.bai BAM index file
Data/ Temporary data used by cisMuton

Output Format of the Call Table (VCF file)

  • The VCF file is based on VCF format 4.0.
  • Example values in the downloadable example output files may be sometimes odd due to the artificiality of the example input files.
  • Columns to be explained:

    Column Description
    ID ID appears only when a call matches with SNP ID.
    QUAL -log10 (p value) of Fisher’s exact test
    FILTER Please use calls with PASS. Filter names are shown when calls do not pass.

INFO Column

ID Description
AF VAF, variant allele frequency
DP Depth at this position in the foreground (tumor) data set
VFR Odds ratio from Fisher’s exact test (WILL BE UPDATED TO: ratio of VAF in the foreground to VAF in the background)
DPP Position used as the pivot of deletion
DPB Depth at this position in the background (normal) data set
FG Nucleotide counts at this position in the foreground for \|A\|C\|G\|T\|D\|I\|. D = deletion, I = insertion.
BG Nucleotide counts at this position in the background for \|A\|C\|G\|T\|D\|I\|. D = deletion, I = insertion.
HL Length of homopolymer surrounding this position.
SMAF VAF of most frequently observed variant.
VOR Variant Odds Ratio.
FPV Fisher p-value.
FQV Fisher q-value.

The Last Column

ID Description
GT MEANINGLESS. Genotype.
DP Depth at this position in the foreground.
CN NOT USEFUL. Depth in the foreground / Depth in the background.