Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000535633 [[89057523, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224653]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000424319 [[89057523, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225392]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000343727 [[89058535, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224020, 89224299]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000534731 [[89059466, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224496]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
ENST00000525196 [[89059511, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224528]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
ENST00000263317 [[89059511, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224653]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
ENST00000532825 [[89059514, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225358]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000527956 [[89059514, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225387], [89231164, 89231355]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000542487 [[89059514, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225387], [89231164, 89231355], [89279804, 89279863], [89322607, 89322779]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
ENST00000527626 [[89059583, 89060044], [89069012, 89069113], [89070614, 89070683], [89073293, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89223625, 89223721], [89224357, 89224496]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073293, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166001]]
ENST00000528341 [[89059734, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223774, 89223900]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223774, 89223852]]
ENST00000413594 [[89059904, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224020, 89224146]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224020, 89224140]]
ENST00000375979 [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89223625, 89223721], [89224357, 89224414]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89223625, 89223721], [89224357, 89224414]]
ENST00000531342 [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89223625, 89223721], [89224357, 89224414]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89223625, 89223721], [89224357, 89224414]]
ENST00000529343 [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224525]] [[89106614, 89106660], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
ENST00000524473 [[89059528, 89060044], [89069012, 89069251]] None
ENST00000525278 [[89176588, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224562]] None
ENST00000393282 [[89222073, 89222161], [89223625, 89223721], [89224357, 89224733]] [[89222149, 89222161], [89223625, 89223721], [89224357, 89224414]]
NM_001291929 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223774, 89223909]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223774, 89223852]]
NM_001291927 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224020, 89224146]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224020, 89224140]]
NM_016931 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224733]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
NM_001143836 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224733]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89224357, 89224414]]
NM_001291926 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185059], [89223625, 89223721], [89224357, 89224733]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89184994]]
NM_001300995 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225387]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
NM_001143837 [[89057520, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223721], [89225288, 89225387], [89231164, 89231355], [89279804, 89279863], [89322607, 89322779]] [[89059923, 89060044], [89069012, 89069113], [89070614, 89070683], [89073230, 89073339], [89075241, 89075361], [89088129, 89088211], [89106599, 89106660], [89133184, 89133247], [89133382, 89133547], [89135493, 89135710], [89155069, 89155150], [89165951, 89166024], [89173855, 89173883], [89177302, 89177400], [89182607, 89182692], [89184952, 89185063], [89223625, 89223706]]
NR_120406 [[89222020, 89222161], [89223625, 89223721], [89224357, 89224733]] None
Promoter
Chrom Start End Description
chr11 89223836 89223846 CAGE_peak_15_at_NOX4_5end
chr11 89223857 89223862 CAGE_peak_18_at_NOX4_5end
chr11 89223883 89223904 CAGE_peak_12_at_NOX4_5end
chr11 89223924 89223931 CAGE_peak_16_at_NOX4_5end
chr11 89224139 89224162 CAGE_peak_7_at_NOX4_5end
chr11 89224456 89224466 CAGE_peak_11_at_NOX4_5end
chr11 89224488 89224507 CAGE_peak_3_at_NOX4_5end
chr11 89224508 89224563 CAGE_peak_1_at_NOX4_5end
chr11 89224564 89224574 CAGE_peak_8_at_NOX4_5end
chr11 89224580 89224594 CAGE_peak_4_at_NOX4_5end
chr11 89224638 89224649 CAGE_peak_6_at_NOX4_5end
chr11 89224667 89224681 CAGE_peak_2_at_NOX4_5end
chr11 89224826 89224839 CAGE_peak_14_at_NOX4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I089612 89612149 89612487 0.2 [{'connected_gene': 'NOX4', 'score': 0.34}, {'connected_gene': 'ENSG00000255429', 'score': 0.34}, {'connected_gene': 'FOLH1B', 'score': 0.31}]
chr11 GH11I089606 89606407 89608884 0.76 [{'connected_gene': 'NOX4', 'score': 10.12}, {'connected_gene': 'FOLH1B', 'score': 10.12}, {'connected_gene': 'ENSG00000255429', 'score': 0.37}]
chr11 GH11I089489 89489760 89492452 1.54 [{'connected_gene': 'NOX4', 'score': 550.15}, {'connected_gene': 'ENSG00000255295', 'score': 0.44}, {'connected_gene': 'GC11P089484', 'score': 0.44}]
chr11 GH11I089650 89650720 89661927 0.43 [{'connected_gene': 'FOLH1B', 'score': 12.39}, {'connected_gene': 'NOX4', 'score': 4.14}, {'connected_gene': 'UBTFL10', 'score': 0.26}]
chr11 GH11I089571 89571382 89572209 0.2 [{'connected_gene': 'FOLH1B', 'score': 8.85}, {'connected_gene': 'ENSG00000280201', 'score': 0.44}, {'connected_gene': 'ENSG00000279056', 'score': 0.39}, {'connected_gene': 'NOX4', 'score': 0.37}, {'connected_gene': 'ENSG00000255429', 'score': 0.37}]
chr11 GH11I089622 89622077 89623800 0.31 [{'connected_gene': 'FOLH1B', 'score': 11.69}, {'connected_gene': 'NOX4', 'score': 0.29}, {'connected_gene': 'ENSG00000255429', 'score': 0.29}]
chr11 GH11I089613 89613490 89614636 0.51 [{'connected_gene': 'FOLH1B', 'score': 10.14}, {'connected_gene': 'NOX4', 'score': 0.34}, {'connected_gene': 'ENSG00000255429', 'score': 0.34}]
chr11 GH11I089634 89634865 89640115 0.2 [{'connected_gene': 'FOLH1B', 'score': 563.12}, {'connected_gene': 'TUBAP2', 'score': 5.04}, {'connected_gene': 'NOX4', 'score': 4.09}, {'connected_gene': 'ENSG00000255429', 'score': 0.25}]
chr11 GH11I089631 89631428 89634333 0.2 [{'connected_gene': 'FOLH1B', 'score': 11.92}, {'connected_gene': 'LOC100420025', 'score': 3.88}, {'connected_gene': 'NOX4', 'score': 0.26}, {'connected_gene': 'ENSG00000255429', 'score': 0.26}]
chr11 GH11I089581 89581793 89584383 0.38 [{'connected_gene': 'FOLH1B', 'score': 10.2}, {'connected_gene': 'LOC100420021', 'score': 3.94}, {'connected_gene': 'ENSG00000280201', 'score': 0.44}, {'connected_gene': 'NOX4', 'score': 0.44}, {'connected_gene': 'ENSG00000255429', 'score': 0.44}]
chr11 GH11I089436 89436173 89436382 0.31 [{'connected_gene': 'GC11P089484', 'score': 0.25}, {'connected_gene': 'GC11M089389', 'score': 0.25}, {'connected_gene': 'NOX4', 'score': 0.1}]
chr11 GH11I089486 89486171 89486476 0.42 [{'connected_gene': 'GC11P089484', 'score': 550.77}, {'connected_gene': 'NOX4', 'score': 3.0}, {'connected_gene': 'ENSG00000255295', 'score': 0.39}]
chr11 GH11I089416 89416637 89417350 0.2 [{'connected_gene': 'GC11M089389', 'score': 0.31}, {'connected_gene': 'GC11P089484', 'score': 0.2}, {'connected_gene': 'NOX4', 'score': 0.09}]
chr11 GH11I089494 89494662 89497265 0.63 [{'connected_gene': 'ENSG00000255295', 'score': 0.77}, {'connected_gene': 'GC11P089484', 'score': 0.39}, {'connected_gene': 'NOX4', 'score': 0.16}]
chr11 GH11I089501 89501682 89502778 0.2 [{'connected_gene': 'ENSG00000255295', 'score': 0.77}, {'connected_gene': 'GC11M089518', 'score': 0.37}, {'connected_gene': 'NOX4', 'score': 0.17}]
chr11 GH11I089379 89379137 89382569 0.83 [{'connected_gene': 'GC11M089389', 'score': 0.44}, {'connected_gene': 'GC11M089357', 'score': 0.34}, {'connected_gene': 'NOX4', 'score': 0.08}]
chr11 GH11I089556 89556810 89557961 0.57 [{'connected_gene': 'ENSG00000279056', 'score': 550.77}, {'connected_gene': 'ENSG00000280201', 'score': 0.37}, {'connected_gene': 'NOX4', 'score': 0.29}, {'connected_gene': 'ENSG00000255429', 'score': 0.29}]
chr11 GH11I089545 89545539 89546337 0.2 [{'connected_gene': 'ENSG00000279697', 'score': 550.77}, {'connected_gene': 'FOLH1B', 'score': 8.17}, {'connected_gene': 'ENSG00000279045', 'score': 0.77}, {'connected_gene': 'NOX4', 'score': 0.26}]

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