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 | AUTS2 | 7 | 69755471 | G | A | NM_001127232 | 0.002 | neutral | 0 | 0.019 | 0.002 | FKBP6 | 7 | 72754789 | G | T | NM_001281304 | 0.2017 | neutral | 0 | 0 | 0 | BAZ1B | 7 | 72892108 | T | A | NM_032408 | 0.5017 | deleterious | 0.12 | 0.933 | 0.395 | DNAJC30 | 7 | 73097713 | G | A | NM_032317 | 0.0807 | neutral | 1 | 0 | 0 | CLDN3 | 7 | 73183979 | G | A | NM_001306 | 0.675 | deleterious | 0 | 1 | 0.99 | LIMK1 | 7 | 73513559 | G | A | NM_001204426 | 0.8818 | deleterious | 0 | 1 | 0.96 | GTF2IRD1 | 7 | 73969529 | A | G | NM_005685 | 0.4939 | deleterious | 0 | 0.67 | 0.303 | HIP1 | 7 | 75177092 | C | T | NM_005338 | 0.6824 | deleterious | 0.05 | 1 | 0.975 | STYXL1 | 7 | 75625830 | T | C | NM_016086 | 0.0201 | neutral | 0.21 | 0 | 0 | SRRM3 | 7 | 75894088 | G | A | NM_001291831 | 0.3877 | neutral | 0 | 0 | 0 | SRRM3 | 7 | 75894688 | C | A | NM_001291831 | 0.0737 | neutral | 0 | 0 | 0 | YWHAG | 7 | 75959490 | T | G | NM_012479 | 0.9564 | deleterious | 0 | 0.988 | 0.607 | GSAP | 7 | 76950113 | T | A | NM_017439 | 0.6794 | deleterious | 0 | 0.817 | 0.471 | PTPN12 | 7 | 77265144 | G | A | NM_001131009 | 0.0609 | neutral | 0 | 0 | 0 | GNAI1 | 7 | 79840305 | A | G | NM_001256414 | 0.7869 | deleterious | 0 | 0 | 0 | GNAI1 | 7 | 79846700 | T | C | NM_001256414 | 0.6652 | deleterious | 0 | 0 | 0 | DNAAF5 | 7 | 803506 | C | T | NM_017802 | 0.1852 | neutral | 0.05 | 0.999 | 0.814 | GLCCI1 | 7 | 8126004 | G | A | NM_138426 | 0.0446 | neutral | 0.21 | 0.196 | 0.011 | PCLO | 7 | 82544191 | T | C | NM_014510 | 0.6522 | deleterious | 0 | 0.717 | 0.352 | TMEM243 | 7 | 86827302 | G | T | NM_024315 | 0.8733 | deleterious | 0.01 | 0.979 | 0.973 |
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