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 | HSPG2 | 1 | 22205601 | T | C | NM_005529 | 0.4875 | neutral | 0.04 | 0.999 | 0.992 | HHIPL2 | 1 | 222697001 | A | G | NM_024746 | 0.0933 | neutral | 0.87 | 0.001 | 0.005 | HHIPL2 | 1 | 222712108 | G | T | NM_024746 | 0.9635 | deleterious | 0.26 | 1 | 0.998 | MIA3 | 1 | 222805584 | A | G | NM_198551 | 0.0044 | neutral | 0 | 0.013 | 0.01 | MIA3 | 1 | 222835428 | G | A | NM_198551 | 0.1112 | neutral | 0 | 0.991 | 0.541 | SUSD4 | 1 | 223465897 | C | T | NM_001037175 | 0.2137 | neutral | 0 | 0.545 | 0.07 | WDR26 | 1 | 224599157 | G | C | NM_001115113 | 0.3756 | neutral | 0 | 0.963 | 0.785 | EPHX1 | 1 | 226026444 | G | A | NM_000120 | 0.9151 | deleterious | 0 | 0 | 0 | CDC42BPA | 1 | 227307548 | T | G | NM_003607 | 0.7997 | deleterious | 0 | 0.96 | 0.6 | PRSS38 | 1 | 228004966 | C | A | NM_183062 | 0.0105 | neutral | 0.14 | 0.999 | 0.977 | OBSCN | 1 | 228447223 | A | G | NM_001271223 | 0.0862 | neutral | 0 | 0 | 0 | OBSCN | 1 | 228509724 | G | A | NM_001098623 | 0.1092 | neutral | 0 | 0.012 | 0.006 | NUP133 | 1 | 229602434 | T | C | NM_018230 | 0.0218 | neutral | 0.28 | 0 | 0.001 | DISC1 | 1 | 231829616 | C | T | NM_001012957 | 0.0601 | neutral | 0 | 0.72 | 0.191 | DISC1 | 1 | 231935948 | C | G | NM_001164540 | 0.2663 | neutral | 0 | 1 | 0.999 | EPHB2 | 1 | 23237067 | G | A | NM_001309192 | 0.0086 | neutral | 0 | 0 | 0 | GGPS1 | 1 | 235505485 | G | A | NM_001037277 | 0.6642 | deleterious | 0 | 0.143 | 0.059 | HNRNPR | 1 | 23637156 | G | A | NM_001297621 | 0.0488 | neutral | 0 | 0 | 0 | RYR2 | 1 | 237870440 | C | A | NM_001035 | 0.6129 | deleterious | 0 | 0.18 | 0.193 | CHRM3 | 1 | 240072174 | A | T | NM_000740 | 0.9843 | deleterious | 0.01 | 0.996 | 0.978 |
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