1) chr | : chromosome |
2–3) ref_start, ref_end | : GRCh38 locus positions (0-based, half-open) |
4) ref_allele | : reference allele |
5–6) hap1_allele/hap2_allele | : haplotype 1/2 allele |
7) experiment_accession | : ENCODE experiment ID |
8) donor | : EN-TEx individual |
9) tissue | : tissue |
10) assay | : assay |
11–14) cA/cC/cG/cT | : number of reads with A/C/G/T |
15) ref_allele_ratio | : number of reads with reference / total number of reads |
16) p_betabinom | : p values calculated from the beta-binomial test |
17) imbalance significance imbalanced site. | : ‘1’ passes the FDR10% threshold, ‘0’ not a significantly |