View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
152518 | NFXL1 | 4 | 47900786 |
Ref | Alt | Genotype | Validated Method |
C | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12070.p1 | 144 | 54 | 804 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.289 | 0.257 | 0.322 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.9502 | deleterious | 0 | 7 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
2.94 | 5.19 | ||
dScore | CpG | Hydropathicity | Polarity |
3.4 | 0.1 |
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.