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Genetic Variants Identified in Population Using WES.
| Genetic Variants Identified in Population Using WES | ||||
|---|---|---|---|---|
| Subjects | 9 | |||
| All variants | 77204 | |||
| Not confirmed transcript | 20730 | |||
| UTRs | 14597 | |||
| Functionally annotated | 41877 | |||
| Synonymous | 20748 | |||
| Non-synonymous | 21129 | |||
| Missense | 19751 | |||
| Nonsense | 240 | |||
| Frame-shit | 612 | |||
| In-frame | 447 | |||
| Stop-loss | 59 | |||
| Stop-gain | 20 | |||
| Rare | ||||
| (GMAF < 1%) | 5914 | |||
| Novel | 3345 | |||
| Deletion | 645 | |||
| Insertion | 413 | |||
Definition of abbreviations: GMAF = global minor allele frequency.
