View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
348180 | CTU2 | 16 | 88779854 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12350.p1 | 40 | 7 | 7270 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.086 | 0.079 | 0.093 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.7748 | deleterious | 5.037 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 1 | 3.07 | 5.04 |
dScore | CpG | Hydropathicity | Polarity |
3.389 | 2.6 | -2.9 |
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.