View the Detailed Mosaic Information from PubMed ID: 28867142
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
1184 | CLCN5 | X | 49834668 |
Ref | Alt | Genotype | Validated Method |
C | T | Mosaic | |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12854.p1 | 66 | ||
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
exonic | |||
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.831 | deleterious | 1.857 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 0.996 | 3.67 | |
dScore | CpG | Hydropathicity | Polarity |
3.66 | 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.