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Detailed information for vg1223131059:

Variant ID: vg1223131059 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23131059
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, A: 0.01, others allele: 0.00, population size: 372. )

Flanking Sequence (100 bp) in Reference Genome:


GATGGCTTGCGACGTGGCTGGAGCTGGTGACGCCTTGCGGGCACCGAGTAGTGACGCTCCGGCCGGCATTCTCCTCGAGCAACTAGCCGATGAGTTCGAA[G/A]
AAGATGGTAACGTCGACGAGAGCGAGCGGACGTCAGTGATGTAGTGTAGGGGAGGCTGCGACCGGCAAGGCGACGACGTCCAACGTCTCGGTGACATCAC

Reverse complement sequence

GTGATGTCACCGAGACGTTGGACGTCGTCGCCTTGCCGGTCGCAGCCTCCCCTACACTACATCACTGACGTCCGCTCGCTCTCGTCGACGTTACCATCTT[C/T]
TTCGAACTCATCGGCTAGTTGCTCGAGGAGAATGCCGGCCGGAGCGTCACTACTCGGTGCCCGCAAGGCGTCACCAGCTCCAGCCACGTCGCAAGCCATC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 71.10% 0.40% 9.92% 18.58% NA
All Indica  2759 52.60% 0.80% 15.84% 30.84% NA
All Japonica  1512 97.70% 0.00% 1.46% 0.86% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 63.90% 1.30% 9.08% 25.71% NA
Indica II  465 42.60% 1.90% 20.22% 35.27% NA
Indica III  913 46.40% 0.10% 16.65% 36.80% NA
Indica Intermediate  786 57.00% 0.40% 17.43% 25.19% NA
Temperate Japonica  767 99.60% 0.00% 0.26% 0.13% NA
Tropical Japonica  504 94.80% 0.00% 3.57% 1.59% NA
Japonica Intermediate  241 97.50% 0.00% 0.83% 1.66% NA
VI/Aromatic  96 92.70% 0.00% 3.12% 4.17% NA
Intermediate  90 81.10% 0.00% 7.78% 11.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223131059 G -> DEL LOC_Os12g37680.1 N frameshift_variant Average:90.295; most accessible tissue: Minghui63 flag leaf, score: 99.711 N N N N
vg1223131059 G -> A LOC_Os12g37680.1 missense_variant ; p.Glu72Lys; MODERATE nonsynonymous_codon ; E72K Average:90.295; most accessible tissue: Minghui63 flag leaf, score: 99.711 unknown unknown TOLERATED 0.06

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)
vg1223131059 G A -0.02 -0.01 0.0 -0.01 0.0 0.01