View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
57467 | HHATL | 3 | 42735111 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12662.s1 | 107 | 6 | 7889 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.046 | 0.041 | 0.051 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.2226 | neutral | 7.588 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 0.998 | 2.195 | 4.35 |
dScore | CpG | Hydropathicity | Polarity |
1.749 | -0.4 | -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.