View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 6595 | SMARCA2 | 9 | 2076312 |
| Ref | Alt | Genotype | Validated Method |
| T | A | Parental Mosaic Transmitted | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13418.fa | 58 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.0831 | neutral | -1.102 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 1.355 | -3.1 | ||
| dScore | CpG | Hydropathicity | Polarity |
| 0 | -0.7 |
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.