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 | DNAH1 | 3 | 52425336 | C | G | NM_015512 | 0.0079 | neutral | 0 | 0.996 | 0.968 | BAP1 | 3 | 52437518 | C | T | NM_004656 | 0.9268 | deleterious | 0 | 1 | 0.991 | NISCH | 3 | 52492846 | C | G | NM_001276293 | 0.4588 | neutral | 0 | 0.323 | 0.076 | NT5DC2 | 3 | 52558490 | C | T | NM_022908 | 0.4739 | deleterious | 0 | 0.999 | 0.912 | PBRM1 | 3 | 52643674 | G | A | NM_018313 | 0.9458 | deleterious | 0 | 1 | 1 | GNL3 | 3 | 52727771 | A | G | NM_206825 | 0.0164 | neutral | 0.12 | 0 | 0 | ITIH1 | 3 | 52813031 | G | C | NM_002215 | 0.9087 | deleterious | 0.14 | 0.997 | 0.962 | ITIH3 | 3 | 52836816 | A | G | NM_002217 | 0.9515 | deleterious | 0 | 0.658 | 0.24 | CACNA1D | 3 | 53757544 | G | A | NM_001128839 | 0.8914 | deleterious | 0 | 0.955 | 0.557 | IL17RB | 3 | 53889368 | G | A | NM_018725 | 0.9542 | deleterious | 0.02 | 1 | 0.976 | SPATA12 | 3 | 57108101 | C | T | NM_181727 | 0.007 | neutral | 0 | 0.458 | 0.224 | DENND6A | 3 | 57614045 | C | T | NM_152678 | 0.9726 | deleterious | 0.07 | 0.997 | 0.937 | FLNB | 3 | 58095814 | C | T | NM_001164317 | 0.9263 | deleterious | 0 | 0.754 | 0.53 | FLNB | 3 | 58134022 | G | T | NM_001164319 | 0.5765 | deleterious | 0 | 0.997 | 0.999 | FLNB | 3 | 58139188 | T | C | NM_001164319 | 0.7949 | deleterious | 0 | 0.584 | 0.305 | FLNB | 3 | 58145363 | A | C | NM_001164319 | 0.4978 | deleterious | 0 | 0.002 | 0.012 | PTPRG | 3 | 62258653 | T | C | NM_002841 | 0.9782 | deleterious | 0 | 0.999 | 0.996 | FOXP1 | 3 | 71102908 | G | C | NM_001244808 | 0.926 | deleterious | 0 | 0.996 | 0.99 | CNTN3 | 3 | 74420458 | T | A | NM_020872 | 0.6309 | deleterious | 0.08 | 0.163 | 0.471 | GRM7 | 3 | 7620458 | G | A | NM_000844 | 0.9921 | deleterious | 0 | 0.999 | 0.971 |
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