View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 9900 | SV2A | 1 | 149881028 |
| Ref | Alt | Genotype | Validated Method |
| C | G | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13984.p1 | 79 | 16 | 6232 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.1054995 | 0.0977582 | 0.1135829 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.6833 | deleterious | 0.508 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.627 | 0.222 | 1.2 | 5.38 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.519 | -1 | 0.3 |
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.