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 | MRPS22 | 3 | 139065865 | G | A | NM_020191 | 0.8625 | deleterious | 0.03 | 0.969 | 0.714 | RBP1 | 3 | 139257724 | T | C | NM_001130992 | 0.0376 | neutral | 0 | 0.05 | 0.055 | ZBTB38 | 3 | 141163172 | C | G | NM_001080412 | 0.1487 | neutral | 0 | 0.004 | 0.006 | ZBTB38 | 3 | 141163203 | A | T | NM_001080412 | 0.4153 | neutral | 0 | 0.437 | 0.08 | GK5 | 3 | 141884477 | T | C | NM_001039547 | 0.9307 | deleterious | 0.03 | 1 | 0.984 | XRN1 | 3 | 142083987 | C | T | NM_001282857 | 0.3149 | neutral | 0.66 | 0 | 0 | XRN1 | 3 | 142151632 | A | G | NM_001282857 | 0.952 | deleterious | 0 | 0 | 0 | ATR | 3 | 142185303 | T | C | NM_001184 | 0.1034 | neutral | 0.77 | 0.323 | 0.114 | ATR | 3 | 142281298 | C | T | NM_001184 | 0.1278 | neutral | 0.13 | 0.022 | 0.011 | U2SURP | 3 | 142733223 | A | G | NM_001080415 | 0.5669 | deleterious | 0 | 0.985 | 0.788 | CHST2 | 3 | 142839813 | G | C | NM_004267 | 0.8669 | deleterious | 0.01 | 0.998 | 0.989 | AGTR1 | 3 | 148459552 | G | T | NM_000685 | 0.8334 | deleterious | 0.02 | 0 | 0 | CPA3 | 3 | 148614417 | C | T | NM_001870 | 0.0953 | neutral | 0.06 | 0.961 | 0.606 | CP | 3 | 148896396 | C | G | NM_000096 | 0.6225 | deleterious | 0.02 | 1 | 1 | IGSF10 | 3 | 151154509 | C | T | NM_178822 | 0.8886 | deleterious | 0.09 | 1 | 1 | RBSN | 3 | 15123893 | T | A | NM_001302378 | 0.2021 | neutral | 0 | 0 | 0 | AADACL2 | 3 | 151451960 | C | T | NM_207365 | 0.3821 | neutral | 0.43 | 0.001 | 0.002 | AADAC | 3 | 151538186 | A | C | NM_001086 | 0.8851 | deleterious | 0.01 | 1 | 0.997 | MBNL1 | 3 | 152132749 | A | G | NM_021038 | 0.7976 | deleterious | 0 | 1 | 0.999 | SH3BP5 | 3 | 15297787 | T | C | NM_001018009 | 0.0329 | neutral | 0 | 0 | 0 |
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