Table 1 List and description of Integrative Genomics Viewer Navigator (IGVNav) calls and tags used to annotate variants in order of appearance on the IGVNav interface with associated supplementary figure number.
Call Name | Call | Description | Figure |
|---|---|---|---|
Somatic | S | Variant has sufficient support in the tumor with absence of obvious sequencing artifacts | S1 |
Germline | G | Variant that has sufficient support in the normal sample beyond what is considered attributable to tumor contamination of the normal | S2 |
Ambiguous | A | Variant does not meet acceptable criteria for any other label | S3 |
Fail | F | Variant with low variant support and/or reads that indicate sequencing artifacts | S4 |
Tag Name | Tag | Description | Figure |
|---|---|---|---|
Adjacent Indel | AI | Variant is attributable to misalignment caused by a nearby insertion or deletion | S16 |
Ambiguous Other | AO | Variant is surrounded by inconclusive genomic features that cannot be explained by other tags | S22 |
Directional | D | Variant is only (or mostly) found on reads in the same direction (positive or negative) | S5 |
Dinucleotide repeat | DN | Variant is adjacent to a region in the reference genome that has two alternating nucleotides (e.g., TGTGTG…) | S20 |
End of reads | E | Variant is only seen close to the end (within 30 base pairs) of variant-supporting reads | S18 |
High Discrepancy Region | HDR | Variant is supported by reads that have other recurrent mismatches across the track and in multiple tracks | S12 |
Low Count Normal | LCN | Variant has inadequate coverage in the normal track, thus preventing effective comparison with the tumor track | S7 |
Low Count Tumor | LCT | Variant has inadequate coverage in the tumor track, thus preventing effective comparison with the normal track | S8 |
Low Mapping quality | LM | Variant is mostly supported by reads that have low mapping quality | S13 |
Low Variant Frequency | LVF | Variant has low variant allele frequency (VAF) samples | S10 |
Multiple Mismatches | MM | Variant is supported by reads that have other mismatched base pairs | S11 |
Mononucleotide repeat | MN | Variant is adjacent to a region in the reference genome that has a single-nucleotide repeat (e.g., AAAAAA…) | S19 |
Multiple Variants | MV | Variant locus has read support for three or more alleles | S9 |
No Count Normal | NCN | Variant has no coverage in the normal track, thus preventing effective comparison with the tumor track | S6 |
Short Inserts | SI | Variant is found mostly on small nucleic acid fragments whereby sequencing from each end results in overlapping reads | S15 |
Short Inserts Only | SIO | Variant is exclusively found on small nucleic acid fragments such that sequencing from each end results in overlapping reads | S15 |
Same Start End | SSE | Variant is only observed in reads that start and stop at the same positions | S17 |
Tumor in Normal | TN | Variant has read support in the normal track | S14 |
Tandem Repeat | TR | Variant is adjacent to a region in the reference genome that has three or more alternating nucleotides (e.g., GTGGTGGTG…) | S21 |