View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 2036 | EPB41L1 | 20 | 34773214 |
| Ref | Alt | Genotype | Validated Method |
| C | T | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11347.s1 | 107 | 14 | 29566 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.105 | 0.103 | 0.108 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.752 | deleterious | 0 | 2.6 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.995 | 0.837 | 4.33 | |
| dScore | CpG | Hydropathicity | Polarity |
| 3.155 | 3.6 | -5.1 |
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.