View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 56146 | PCDHA2 | 5 | 140175208 |
| Ref | Alt | Genotype | Validated Method |
| C | A | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13987.p1 | 88 | 33 | 17680 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.2860301 | 0.2793883 | 0.2927335 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.9993 | deleterious | 5.82 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 1 | 1 | 4.67 | 4.02 |
| dScore | CpG | Hydropathicity | Polarity |
| 4.022 | -1.6 | 2.4 |
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.