Table 3.
The Total and Average Number of SNVs/Indels in the Sequenced Samples (n=10,077).
| All Calls | Deleterious Callsa: CADD/SIFTb/Intersection | ||||
|---|---|---|---|---|---|
| SNVs | Total Counts | Novel Counts | Total Counts | Novel Counts | |
| All 77 Genes | Number of SNVs | 10,205,546 | 9,997,316 | 462,915/360,310/190,311 | 426,384/346,108/176,148 |
| SNVs/Sample | 1,012.8 | 992.1 | 45.9/35.8/18.9 | 42.3/34.4/17.5 | |
| 13 Alert Genes | Number of SNVs | 1,388,855 | 1,219,760 | 93,875/92,352/44,614 | 73,987/80,835/33,136 |
| SNVs/Sample | 137.8 | 121.0 | 9.3/9.2/4.4 | 7.3/8.0/3.3 | |
| INDELS | Total Counts | Novel Counts | Total Counts | Novel Counts | |
| All 77 Genes | Number of Indels | 620,215 | 576,068 | 11,749/0/0 | 1,697/0/0 |
| Indels/Sample | 61.6 | 57.2 | 1.2/0/0 | 0.2/0/0 | |
| 13 Alert Genes | Number of Indels | 69,787 | 56,346 | 5,509/0/0 | 0/0/0 |
| Indels/Sample | 6.9 | 5.6 | 0.6/0/0 | 0/0/0 | |
a
Novel Counts are total SNV/Indel variant counts excluding those included in 133 CPIC actionable variants included in the Mayo Drug-Gene Pair Alerts plus stop gain, stop loss and frameshift variants. For this analysis, “deleterious” has been defined as having a CADD score > 2017 and/or a SIFT score < 0.05.18
b
SIFT output is limited to frameshift/non-frameshift for indels.