Variation Color Code::nonsense, splice :missense :synonymous :indel :non-coding, intron, other
Variant position | rsID | Ref/Alt | Frequency of alternative allele | Genotype count | Number of Samples Covered | Average sample read depth | Alleles | Gene | mRNA Accession# | Function | Org | Platform | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Codon | AA | ||||||||||||||||
Ref/Ref | Ref/Alt | Alt/Alt | Ref | Alt | Ref | Alt | |||||||||||
chr2:219677420 | rs144018609 | G/A | 0.0095 | 1188 | 21 | 1 | 1210 | 262.79±124.05 | 0.9905 0.0095 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | All | |
chr2:219677420 | rs144018609 | G/A | 0.0117 | 294 | 5 | 1 | 300 | 232.39±166.55 | 0.9883 0.0117 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | KU | HiSeq + SOLiD |
chr2:219677420 | rs144018609 | G/A | 0.0058 | 424 | 5 | 0 | 429 | 248.76±13.23 | 0.9942 0.0058 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | YCU | HiSeq |
chr2:219677420 | rs144018609 | G/A | 0.0357 | 65 | 5 | 0 | 70 | 326.79±71.8 | 0.9643 0.0357 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | NCCHD | HiSeq |
chr2:219677420 | rs144018609 | G/A | 0.0132 | 37 | 1 | 0 | 38 | 548.45±212.01 | 0.9868 0.0132 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | TU | HiSeq |
chr2:219677420 | rs144018609 | G/A | 0.0067 | 368 | 5 | 0 | 373 | 262.25±109.59 | 0.9933 0.0067 | CYP27A1 | NM_000784 | GTG | GTA | Val | Val | UT | HiSeq |