View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 8603 | FAM193A | 4 | 2661708 |
| Ref | Alt | Genotype | Validated Method |
| G | A | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11561.p1 | 75 | 5 | 21458 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.007 | 0.006 | 0.008 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.742 | deleterious | 0.14 | 5.847 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.951 | 0.371 | 0.345 | 4.77 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.579 | -0.4 | 0.2 |
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.