View Variant Prediction
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.
| Gene Symbol | Chr | Position | refNT | altNT | transcript | iFish Probability | iFish Prediction | SIFT | Polyhen2_HDIV | Polyhen2_HVAR | EXOC4 | 7 | 133689775 | A | G | NM_021807 | 0.9235 | deleterious | 0.21 | 1 | 0.984 | KIAA1549 | 7 | 138552798 | G | A | NM_001164665 | 0.4241 | neutral | 0 | 1 | 0.999 | UBN2 | 7 | 138967816 | C | G | NM_173569 | 0.1421 | neutral | 0 | 0.001 | 0.003 | C7orf55-LUC7L2 | 7 | 139102437 | C | G | NM_001244584 | 0.1047 | neutral | 0 | 0.932 | 0.88 | ETV1 | 7 | 13978754 | A | G | NM_001163148 | 0.7024 | deleterious | 0.06 | 0 | 0 | NDUFB2 | 7 | 140402787 | T | C | NM_004546 | 0.6457 | deleterious | 0 | 1 | 0.999 | BRAF | 7 | 140481409 | A | C | NM_004333 | 0.9893 | deleterious | 0 | 0 | 0.028 | KIAA1147 | 7 | 141385372 | G | T | NM_001080392 | 0.7345 | deleterious | 0 | 0.973 | 0.796 | TAS2R3 | 7 | 141464367 | G | A | NM_016943 | 0.081 | neutral | 0.34 | 0.006 | 0.007 | TAS2R3 | 7 | 141464483 | G | T | NM_016943 | 0.0626 | neutral | 0.17 | 0.27 | 0.136 | TRPV5 | 7 | 142612052 | T | G | NM_019841 | 0.9976 | deleterious | 0.09 | 0.996 | 0.957 | KEL | 7 | 142655008 | G | A | NM_000420 | 0.3156 | neutral | 0.04 | 0.96 | 0.24 | CASP2 | 7 | 142988644 | T | C | NM_032982 | 0.0046 | neutral | 1 | 0.001 | 0 | ZYX | 7 | 143079777 | G | A | NM_001010972 | 0.4064 | neutral | 0.06 | 0.997 | 0.737 | EPHA1 | 7 | 143095153 | C | T | NM_005232 | 0.0696 | neutral | 0.07 | 0.545 | 0.112 | NOBOX | 7 | 144097259 | C | T | NM_001080413 | 0.3269 | neutral | 0.09 | 0 | 0 | TPK1 | 7 | 144150703 | C | T | NM_001042482 | 0.2719 | neutral | 0 | 0.997 | 0.868 | CNTNAP2 | 7 | 146818169 | G | C | NM_014141 | 0.8651 | deleterious | 0.54 | 0.011 | 0.029 | ZNF777 | 7 | 149129928 | A | G | NM_015694 | 0.0536 | neutral | 0.29 | 0.003 | 0.003 | SSPO | 7 | 149519648 | C | T | NM_198455 | 0.0647 | neutral | 0 | 0.88 | 0.153 |
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