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Detailed information for vg0529384250:

Variant ID: vg0529384250 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 29384250
Reference Allele: GAlternative Allele: GC
Primary Allele: GCSecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 322. )

Flanking Sequence (100 bp) in Reference Genome:


AGCTGCCTTCCTGCAGTCTGTCTCTCAATCCATGGATCGCCGTCTGGGTGAATTATCCAAGAAAAAAAAAAGTAATGTAAGTATACAAGATTAACTGGTT[G/GC]
CCTCCCTCTACTCATATCATAGATAAATAACGTCAATAAAAAGGGCCAAGCTAAACTAATTAAAAGGGACAGAGGAAAAGGTTGTACTAGTGTACTTGAG

Reverse complement sequence

CTCAAGTACACTAGTACAACCTTTTCCTCTGTCCCTTTTAATTAGTTTAGCTTGGCCCTTTTTATTGACGTTATTTATCTATGATATGAGTAGAGGGAGG[C/GC]
AACCAGTTAATCTTGTATACTTACATTACTTTTTTTTTTCTTGGATAATTCACCCAGACGGCGATCCATGGATTGAGAGACAGACTGCAGGAAGGCAGCT

Allele Frequencies:

Populations Population SizeFrequency of GC(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 64.20% 35.50% 0.11% 0.21% NA
All Indica  2759 95.30% 4.40% 0.11% 0.22% NA
All Japonica  1512 4.80% 95.00% 0.00% 0.20% NA
Aus  269 98.10% 1.90% 0.00% 0.00% NA
Indica I  595 98.30% 1.20% 0.17% 0.34% NA
Indica II  465 83.90% 15.30% 0.22% 0.65% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 95.00% 4.70% 0.13% 0.13% NA
Temperate Japonica  767 0.30% 99.70% 0.00% 0.00% NA
Tropical Japonica  504 13.10% 86.70% 0.00% 0.20% NA
Japonica Intermediate  241 2.10% 97.10% 0.00% 0.83% NA
VI/Aromatic  96 16.70% 82.30% 0.00% 1.04% NA
Intermediate  90 57.80% 40.00% 2.22% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0529384250 G -> DEL N N silent_mutation Average:70.695; most accessible tissue: Callus, score: 91.531 N N N N
vg0529384250 G -> GC LOC_Os05g51230.1 3_prime_UTR_variant ; 10.0bp to feature; MODIFIER silent_mutation Average:70.695; most accessible tissue: Callus, score: 91.531 N N N N
vg0529384250 G -> GC LOC_Os05g51220.1 upstream_gene_variant ; 2752.0bp to feature; MODIFIER silent_mutation Average:70.695; most accessible tissue: Callus, score: 91.531 N N N N
vg0529384250 G -> GC LOC_Os05g51240.1 downstream_gene_variant ; 1665.0bp to feature; MODIFIER silent_mutation Average:70.695; most accessible tissue: Callus, score: 91.531 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0529384250 G GC 0.01 0.12 0.39 0.04 0.09 0.07