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Detailed information for vg0228809292:

Variant ID: vg0228809292 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 28809292
Reference Allele: TCAlternative Allele: T
Primary Allele: TCSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCAGCCGCGCGCCGGCCGCACGCGCGTGCGCACAGCTAGCGATCGATCGTGATCGTGACCGCGGCCGGGTTGACTGCCGCTCGACGAGCGCACACATCGA[TC/T]
AGCCGGCCGGACGAGGAGATTGTCAGATCGTCTCGGCTCGTCGACGGATTGGCCATCATGTTCGAGGGGATGGAGAGGGCGGGCTACGGCGTCGGCGTCG

Reverse complement sequence

CGACGCCGACGCCGTAGCCCGCCCTCTCCATCCCCTCGAACATGATGGCCAATCCGTCGACGAGCCGAGACGATCTGACAATCTCCTCGTCCGGCCGGCT[GA/A]
TCGATGTGTGCGCTCGTCGAGCGGCAGTCAACCCGGCCGCGGTCACGATCACGATCGATCGCTAGCTGTGCGCACGCGCGTGCGGCCGGCGCGCGGCTGG

Allele Frequencies:

Populations Population SizeFrequency of TC(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.50% 5.50% 0.00% 0.00% NA
All Indica  2759 100.00% 0.00% 0.00% 0.00% NA
All Japonica  1512 85.60% 14.40% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 100.00% 0.00% 0.00% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 57.70% 42.30% 0.00% 0.00% NA
Japonica Intermediate  241 98.30% 1.70% 0.00% 0.00% NA
VI/Aromatic  96 66.70% 33.30% 0.00% 0.00% NA
Intermediate  90 88.90% 11.10% 0.00% 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
vg0228809292 TC -> T LOC_Os02g47190.1 5_prime_UTR_variant ; 58.0bp to feature; MODIFIER silent_mutation Average:93.182; most accessible tissue: Minghui63 flag leaf, score: 98.905 N N N N
vg0228809292 TC -> T LOC_Os02g47180.1 downstream_gene_variant ; 3301.0bp to feature; MODIFIER silent_mutation Average:93.182; most accessible tissue: Minghui63 flag leaf, score: 98.905 N N N N
vg0228809292 TC -> T LOC_Os02g47200.1 downstream_gene_variant ; 3098.0bp to feature; MODIFIER silent_mutation Average:93.182; most accessible tissue: Minghui63 flag leaf, score: 98.905 N N N N
vg0228809292 TC -> T LOC_Os02g47180.2 downstream_gene_variant ; 3301.0bp to feature; MODIFIER silent_mutation Average:93.182; most accessible tissue: Minghui63 flag leaf, score: 98.905 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)
vg0228809292 TC T 0.14 0.12 0.12 -0.04 0.02 0.07