View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 7450 | VWF | 12 | 6094774 |
| Ref | Alt | Genotype | Validated Method |
| C | T | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11641.p1 | 82 | 11 | 4122 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.1513191 | 0.136912 | 0.166515 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.4329 | neutral | 0.01 | 1.306 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.969 | 0.639 | 2.48 | 2.86 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.928 | -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.