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 | PEG3 | 19 | 57325545 | G | C | NM_001146185 | 0.0376 | neutral | 0 | 0 | 0 | USP29 | 19 | 57641305 | T | C | NM_020903 | 0.3085 | neutral | 0.39 | 0.728 | 0.285 | ZNF805 | 19 | 57765985 | G | A | NM_001145078 | 0.3198 | neutral | 0 | 0 | 0 | ZNF460 | 19 | 57803573 | T | A | NM_006635 | 0.0506 | neutral | 0 | 0.001 | 0.001 | ZNF304 | 19 | 57863052 | T | C | NM_001290318 | 0.0056 | neutral | 0 | 0 | 0 | ZNF530 | 19 | 58117413 | G | A | NM_020880 | 0.182 | neutral | 0.02 | 0.775 | 0.197 | CHMP2A | 19 | 59063080 | G | C | NM_014453 | 0.1403 | neutral | 0.78 | 0 | 0 | RFX2 | 19 | 6013032 | C | T | NM_134433 | 0.058 | neutral | 0 | 0.094 | 0.108 | RFX2 | 19 | 6044241 | G | A | NM_000635 | 0.058 | neutral | 0.66 | 0.604 | 0.094 | HCN2 | 19 | 615843 | C | G | NM_001194 | 0.6528 | deleterious | 0 | 1 | 0.997 | PSPN | 19 | 6375788 | C | T | NM_004158 | 0.1967 | neutral | 0.42 | 0.429 | 0.019 | FGF22 | 19 | 643270 | G | A | NM_001300812 | 0.8926 | deleterious | 0 | 0 | 0 | C3 | 19 | 6678390 | G | C | NM_000064 | 0.8364 | deleterious | 0.01 | 0.997 | 0.986 | ZNF557 | 19 | 7083553 | C | A | NM_001044388 | 0.0002 | neutral | 0 | 0.138 | 0.016 | PEX11G | 19 | 7553881 | C | A | NM_001270539 | 0.8743 | deleterious | 0.05 | 0 | 0 | LRRC8E | 19 | 7964482 | G | A | NM_001268285 | 0.4715 | deleterious | 0 | 0 | 0 | FBN3 | 19 | 8175770 | T | A | NM_032447 | 0.1729 | neutral | 0 | 0.026 | 0.045 | FBN3 | 19 | 8183871 | G | A | NM_032447 | 0.1467 | neutral | 0 | 0.039 | 0.005 | CD320 | 19 | 8367787 | T | C | NM_001165895 | 0.017 | neutral | 0 | 0.001 | 0.002 | ANGPTL4 | 19 | 8434160 | T | G | NM_139314 | 0.7712 | deleterious | 0 | 1 | 0.995 |
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