View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
6772 | STAT1 | 2 | 191850362 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
11352.p1 | 327 | 106 | 9479 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.287 | 0.28 | 0.295 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.71 | deleterious | 0.16 | 6.39 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.997 | 0.954 | 2.2 | 5.11 |
dScore | CpG | Hydropathicity | Polarity |
2.15 | -0.4 | 0.2 |
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.