View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
6749 | SSRP1 | 11 | 57099680 |
Ref | Alt | Genotype | Validated Method |
C | G | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
11740.p1 | 76 | 26 | 11698 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.316 | 0.307 | 0.325 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.9952 | deleterious | 0.01 | 7.239 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.982 | 0.818 | 2.89 | 5.65 |
dScore | CpG | Hydropathicity | Polarity |
2.149 | 2.9 | -2.5 |
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.