View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
114899 | C1QTNF3 | 5 | 34028963 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
13464.p1 | 133 | 8 | 9278 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.017 | 0.014 | 0.02 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.9493 | deleterious | 0.13 | 7.112 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.967 | 0.76 | 2.825 | 5.56 |
dScore | CpG | Hydropathicity | Polarity |
1.933 | 5.2 | -3.4 |
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.