View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 54583 | EGLN1 | 1 | 231506328 |
| Ref | Alt | Genotype | Validated Method |
| T | C | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11042.p1 | 131 | 15 | 1880 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.141 | 0.126 | 0.158 | exonic |
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.