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Detailed information for vg0205345960:

Variant ID: vg0205345960 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5345960
Reference Allele: AAlternative Allele: AG
Primary Allele: ASecondary Allele: AG

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.99, others allele: 0.00, population size: 336. )

Flanking Sequence (100 bp) in Reference Genome:


AAACCACTTGACTTGACTGAGAGGATGAATTCTTTCGGCTGCCAGGATGCAGTGTGCATCACAAAGTTGAACAATTTAAGAAATGTAGCAGCCGACAAGA[A/AG]
GAAGTGTGAGGATAGAGCAGCAAAGGTGGATGTTGAAATCTTGTAGGTTGCAATCCATTCCACGCCCCTAGCCGCCTTAGATCTTGTCGAGCTTCTCAGC

Reverse complement sequence

GCTGAGAAGCTCGACAAGATCTAAGGCGGCTAGGGGCGTGGAATGGATTGCAACCTACAAGATTTCAACATCCACCTTTGCTGCTCTATCCTCACACTTC[T/CT]
TCTTGTCGGCTGCTACATTTCTTAAATTGTTCAACTTTGTGATGCACACTGCATCCTGGCAGCCGAAAGAATTCATCCTCTCAGTCAAGTCAAGTGGTTT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of AG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 76.20% 23.40% 0.04% 0.34% NA
All Indica  2759 72.00% 27.40% 0.07% 0.54% NA
All Japonica  1512 99.20% 0.80% 0.00% 0.00% NA
Aus  269 14.10% 85.50% 0.00% 0.37% NA
Indica I  595 98.70% 1.30% 0.00% 0.00% NA
Indica II  465 53.50% 45.20% 0.00% 1.29% NA
Indica III  913 64.80% 34.80% 0.11% 0.22% NA
Indica Intermediate  786 71.10% 27.90% 0.13% 0.89% NA
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 97.50% 2.50% 0.00% 0.00% NA
VI/Aromatic  96 11.50% 88.50% 0.00% 0.00% NA
Intermediate  90 73.30% 26.70% 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
vg0205345960 A -> AG LOC_Os02g10200.1 3_prime_UTR_variant ; 76.0bp to feature; MODIFIER silent_mutation Average:83.973; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0205345960 A -> AG LOC_Os02g10200.2 3_prime_UTR_variant ; 76.0bp to feature; MODIFIER silent_mutation Average:83.973; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0205345960 A -> AG LOC_Os02g10210.1 upstream_gene_variant ; 2759.0bp to feature; MODIFIER silent_mutation Average:83.973; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0205345960 A -> AG LOC_Os02g10190.1 downstream_gene_variant ; 1443.0bp to feature; MODIFIER silent_mutation Average:83.973; most accessible tissue: Minghui63 young leaf, score: 89.337 N N N N
vg0205345960 A -> DEL N N silent_mutation Average:83.973; most accessible tissue: Minghui63 young leaf, score: 89.337 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)
vg0205345960 A AG -0.06 -0.24 -0.17 -0.07 -0.11 -0.13