View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 79869 | CPSF7 | 11 | 61187420 |
| Ref | Alt | Genotype | Validated Method |
| C | T | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11039.p1 | 70 | 6 | 1668 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.062 | 0.05 | 0.074 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.173 | neutral | 6.354 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.016 | 0.002 | 1.7 | 5.15 |
| dScore | CpG | Hydropathicity | Polarity |
| 0.442 | 1.3 | -0.1 |
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.