View allele annotations 

You can view the following information in the View Allele Annotations tab of the Variant Calls by Allele table.

Column

Description

Allele Call

Decision whether the allele is detected (Heterozygous or Homozygous), not detected (Absent), or filtered (No Call). No Call and Absent are for only hotspot calls.

Subset Of

The name of the called allele that is a strict superset of the two SNPs. For example, if a called (homozygous or heterozygous) MNP is composed of two SNPs, then the MNP is considered to be a strict superset of the two SNPs.

Variant Type

The type of the variant called.

  • SNP—single nucleotide polymorphism.

  • IND—insertion.

  • DEL—deletion.

  • MNP—multiple nucleotide polymorphism or the substitution of a block sequence by the block of another length.

  • COMPLEX—Block substitution of sequence by a block of unequal length.

Allele Source

Allele source is called as:

  • Hotspot—for alleles included in the hotspots file.

  • Novel—for all other alleles.

Allele Name

The allele name as defined in the hotspots file.

For novel alleles, the name is defined as tvc.novel.#.

Gene ID

The Gene ID as defined in the target regions file.

Region Name

The region name as defined in the target regions file.