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Detailed information for vg0625198248:

Variant ID: vg0625198248 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 25198248
Reference Allele: ATGCAlternative Allele: A
Primary Allele: ATGCSecondary Allele: Unkown

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTTGACCTGTAGTCTCCGGCTACCACTCTAGCTTAAGCAGTCTAGCGAGCTCATCGCGTCGCGCTCTTCTCGACGAGCTCCAATTTCAGGCAAGATGTCG[ATGC/A]
TGCCGCGCTTCCTCCTCCTCGTCGTGCTGCTCGCGGTGCCGATGACGGCGGCGCAGCAGCAGTACGAGGCCAACGCGCAGGGCGACTGCTACACCGACAA

Reverse complement sequence

TTGTCGGTGTAGCAGTCGCCCTGCGCGTTGGCCTCGTACTGCTGCTGCGCCGCCGTCATCGGCACCGCGAGCAGCACGACGAGGAGGAGGAAGCGCGGCA[GCAT/T]
CGACATCTTGCCTGAAATTGGAGCTCGTCGAGAAGAGCGCGACGCGATGAGCTCGCTAGACTGCTTAAGCTAGAGTGGTAGCCGGAGACTACAGGTCAAC

Allele Frequencies:

Populations Population SizeFrequency of ATGC(primary allele) Frequency of Unkown(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.50% 0.00% 4.36% 23.17% NA
All Indica  2759 69.40% 0.00% 5.15% 25.44% NA
All Japonica  1512 74.60% 0.00% 2.18% 23.21% NA
Aus  269 81.40% 0.00% 10.04% 8.55% NA
Indica I  595 51.10% 0.00% 9.58% 39.33% NA
Indica II  465 81.30% 0.00% 3.23% 15.48% NA
Indica III  913 74.40% 0.00% 3.61% 22.02% NA
Indica Intermediate  786 70.50% 0.00% 4.71% 24.81% NA
Temperate Japonica  767 88.80% 0.00% 0.13% 11.08% NA
Tropical Japonica  504 63.70% 0.00% 4.37% 31.94% NA
Japonica Intermediate  241 52.30% 0.00% 4.15% 43.57% NA
VI/Aromatic  96 97.90% 0.00% 2.08% 0.00% NA
Intermediate  90 76.70% 0.00% 2.22% 21.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0625198248 ATGC -> A LOC_Os06g41980.1 disruptive_inframe_deletion ; p.Leu4del; MODERATE N Average:95.081; most accessible tissue: Zhenshan97 young leaf, score: 96.811 N N N N
vg0625198248 ATGC -> A LOC_Os06g41990.1 downstream_gene_variant ; 2027.0bp to feature; MODIFIER N Average:95.081; most accessible tissue: Zhenshan97 young leaf, score: 96.811 N N N N
vg0625198248 ATGC -> A LOC_Os06g41990.2 downstream_gene_variant ; 2027.0bp to feature; MODIFIER N Average:95.081; most accessible tissue: Zhenshan97 young leaf, score: 96.811 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)
vg0625198248 ATGC A -0.09 0.14 0.21 -0.06 -0.01 -0.13