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 | MAP4 | 3 | 47957453 | T | C | NM_001134364 | 0.0103 | neutral | 0 | 0.002 | 0.003 | PLXNB1 | 3 | 48459731 | G | A | NM_001130082 | 0.9173 | deleterious | 0.08 | 0 | 0 | COL7A1 | 3 | 48606872 | C | T | NM_000094 | 0.3062 | neutral | 0.55 | 0.978 | 0.442 | COL7A1 | 3 | 48606874 | T | G | NM_000094 | 0.027 | neutral | 0.6 | 0.004 | 0.01 | COL7A1 | 3 | 48621941 | G | A | NM_000094 | 0.329 | neutral | 0.02 | 0.991 | 0.328 | IMPDH2 | 3 | 49064457 | C | G | NM_000884 | 0.1613 | neutral | 0 | 0.998 | 0.987 | DAG1 | 3 | 49570115 | C | T | NM_001165928 | 0.1871 | neutral | 0 | 0 | 0 | BSN | 3 | 49694871 | C | T | NM_003458 | 0.9262 | deleterious | 0 | 1 | 0.999 | RNF123 | 3 | 49753101 | A | G | NM_022064 | 0.9794 | deleterious | 0.14 | 0.997 | 0.97 | GMPPB | 3 | 49759429 | A | G | NM_013334 | 0.9902 | deleterious | 0 | 0.994 | 0.918 | SEMA3F | 3 | 50211299 | G | C | NM_004186 | 0.0035 | neutral | 0 | 0.853 | 0.718 | TMEM115 | 3 | 50396002 | G | C | NM_007024 | 0.9763 | deleterious | 0.03 | 0.956 | 0.501 | VPRBP | 3 | 51452176 | G | A | NM_001171904 | 0.7028 | deleterious | 0 | 0 | 0 | VPRBP | 3 | 51457792 | T | C | NM_001171904 | 0.3925 | neutral | 0 | 0 | 0 | RAD54L2 | 3 | 51696843 | C | T | NM_015106 | 0.4117 | neutral | 0 | 0.002 | 0 | GRM2 | 3 | 51747288 | G | A | NM_000839 | 0.1503 | neutral | 0 | 0.972 | 0.807 | ABHD14A | 3 | 52011912 | G | A | NM_015407 | 0.4903 | neutral | 0 | 0.983 | 0.342 | ABHD14A | 3 | 52014897 | C | G | NM_015407 | 0.4903 | neutral | 0.4 | 0.116 | 0.095 | DNAH1 | 3 | 52356651 | C | T | NM_015512 | 0.0038 | neutral | 0 | 0 | 0 | DNAH1 | 3 | 52409336 | C | T | NM_015512 | 0.5927 | deleterious | 0 | 1 | 1 |
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