View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 8085 | KMT2D | 12 | 49433800 |
| Ref | Alt | Genotype | Validated Method |
| C | G | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 14023.p1 | 210 | 11 | 5117 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.04296682 | 0.03731152 | 0.0491046 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.9886 | deleterious | 0 | 2.115 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.981 | 0.593 | 0.345 | 4.29 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.969 | -4.1 | 1.5 |
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.