View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
63971 | KIF13A | 6 | 17809126 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
11768.s1 | 185 | 12 | 3767 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.06 | 0.052 | 0.068 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.8487 | deleterious | 7.728 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 0.997 | 2.68 | 5.34 |
dScore | CpG | Hydropathicity | Polarity |
1.945 | 1 | 0 |
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.