View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 7915 | ALDH5A1 | 6 | 24505151 |
| Ref | Alt | Genotype | Validated Method |
| G | A | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13521.p1 | 74 | 18 | 6721 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.208 | 0.199 | 0.218 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.4536 | neutral | 9.187 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.998 | 0.81 | 4.765 | 3.97 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.114 | -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.