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 | ATP1B1 | 1 | 169094277 | G | A | NM_001677 | 0.0101 | neutral | 0 | 0 | 0.001 | SELP | 1 | 169576253 | C | G | NM_003005 | 0.2831 | neutral | 0.66 | 0.011 | 0.044 | GORAB | 1 | 170508470 | C | T | NM_001146039 | 0.3655 | neutral | 0.11 | 0 | 0 | METTL13 | 1 | 171759604 | G | A | NM_001007239 | 0.1876 | neutral | 0 | 0.996 | 0.864 | CROCC | 1 | 17263235 | G | A | NM_014675 | 0.2238 | neutral | 0.77 | 0.78 | 0.09 | CROCC | 1 | 17272061 | T | C | NM_014675 | 0.9229 | deleterious | 0.01 | 0.999 | 0.974 | SDHB | 1 | 17349179 | C | T | NM_003000 | 0.9317 | deleterious | 0.01 | 0.991 | 0.806 | SLC9C2 | 1 | 173493166 | A | G | NM_178527 | 0.002 | neutral | 0.35 | 0 | 0 | RC3H1 | 1 | 173947626 | C | T | NM_001300850 | 0.8886 | deleterious | 0 | 0 | 0 | PADI1 | 1 | 17531782 | G | A | NM_013358 | 0.4716 | deleterious | 0.38 | 0.995 | 0.785 | RFWD2 | 1 | 175958552 | T | C | NM_001286644 | 0.8448 | deleterious | 0 | 0 | 0 | PADI3 | 1 | 17596738 | T | G | NM_016233 | 0.0927 | neutral | 0.87 | 0.889 | 0.426 | PADI3 | 1 | 17596817 | C | T | NM_016233 | 0.2747 | neutral | 0.07 | 0.004 | 0.003 | SOAT1 | 1 | 179310419 | T | G | NM_001252512 | 0.6798 | deleterious | 0 | 0 | 0 | SOAT1 | 1 | 179311252 | C | A | NM_001252512 | 0.7801 | deleterious | 0 | 0 | 0 | CEP350 | 1 | 179985050 | A | G | NM_014810 | 0.828 | deleterious | 0 | 0.982 | 0.952 | KIAA1614 | 1 | 180905263 | C | T | NM_020950 | 0.0127 | neutral | 0 | 0 | 0 | MR1 | 1 | 181021601 | C | T | NM_001194999 | 0.0337 | neutral | 0 | 0.037 | 0.012 | CACNA1E | 1 | 181686288 | C | T | NM_000721 | 0.9758 | deleterious | 0 | 1 | 0.996 | ZNF648 | 1 | 182026889 | C | T | NM_001009992 | 0.0771 | neutral | 0.28 | 0.002 | 0.001 |
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