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
ENST00000355303 [[69924407, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70035634]] [[69924712, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
ENST00000398543 [[69924663, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70035633]] [[69934097, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
ENST00000538023 [[69924663, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69995992, 69996004], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70035633]] [[69924712, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69995992, 69996004], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
ENST00000316296 [[69931519, 69931648], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009683]] [[69931624, 69931648], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009599]]
ENST00000530676 [[69931527, 69931776], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034203], [70035174, 70035358]] [[69934097, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
ENST00000531349 [[69954290, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70035358]] [[69954506, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
ENST00000531300 [[69987699, 69987811], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007748]] [[69995826, 69995898], [69998555, 69998567], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007748]]
ENST00000531604 [[69924678, 69924820], [69933857, 69934190], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957867]] [[69924712, 69924820], [69933857, 69934190], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957867]]
ENST00000530480 [[69949202, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957231, 69957297], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978139]] [[69949202, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957231, 69957297], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978139]]
ENST00000529913 [[69950234, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962685]] None
ENST00000529636 [[70011467, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026151]] None
ENST00000525494 [[70016070, 70016273], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034172]] None
NM_018043 [[69924407, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70035651]] [[69924712, 69924820], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69998555, 69998567], [69999162, 69999234], [70002016, 70002094], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034110]]
NR_030691 [[69931515, 69931776], [69933857, 69934190], [69949171, 69949270], [69950104, 69950256], [69951839, 69951894], [69954458, 69954510], [69957812, 69957868], [69962563, 69962605], [69970455, 69970520], [69972166, 69972301], [69978024, 69978185], [69995815, 69995898], [69999162, 69999234], [70003052, 70003127], [70007266, 70007468], [70007727, 70007839], [70009388, 70009446], [70011575, 70011676], [70013347, 70013493], [70016992, 70017145], [70026109, 70026162], [70028607, 70028792], [70031695, 70031801], [70033843, 70034203], [70035174, 70035651]] None
Promoter
Chrom Start End Description
chr11 69924116 69924138 CAGE_peak_3_at_ANO1_5end
chr11 69924156 69924167 CAGE_peak_9_at_ANO1_5end
chr11 69924397 69924449 CAGE_peak_1_at_ANO1_5end
chr11 69924453 69924482 CAGE_peak_5_at_ANO1_5end
chr11 69924490 69924508 CAGE_peak_7_at_ANO1_5end
chr11 69924589 69924609 CAGE_peak_6_at_ANO1_5end
chr11 69924622 69924633 CAGE_peak_8_at_ANO1_5end
chr11 69924639 69924655 CAGE_peak_2_at_ANO1_5end
chr11 69924687 69924704 CAGE_peak_4_at_ANO1_5end
chr11 69931519 69931528 CAGE_peak_20_at_ANO1_5end
chr11 69931532 69931538 CAGE_peak_21_at_ANO1_5end
chr11 69931554 69931564 CAGE_peak_17_at_ANO1_5end
chr11 69950033 69950046 CAGE_peak_11_at_ANO1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I069947 69947607 69950765 1.62 [{'connected_gene': 'FADD', 'score': 12.18}, {'connected_gene': 'ENSG00000254721', 'score': 10.72}, {'connected_gene': 'ANO1', 'score': 10.63}, {'connected_gene': 'ANO1-AS1', 'score': 10.59}, {'connected_gene': 'ENSG00000260679', 'score': 0.34}, {'connected_gene': 'ENSG00000255191', 'score': 0.28}]
chr11 GH11I070232 70232899 70234612 1.19 [{'connected_gene': 'PPFIA1', 'score': 17.42}, {'connected_gene': 'CTTN', 'score': 15.9}, {'connected_gene': 'FADD', 'score': 14.25}, {'connected_gene': 'ENSG00000254721', 'score': 11.61}, {'connected_gene': 'LOC105369373', 'score': 10.98}, {'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'ENSG00000246889', 'score': 10.44}, {'connected_gene': 'ANO1', 'score': 1.52}, {'connected_gene': 'GC11M070237', 'score': 0.77}, {'connected_gene': 'PIR45158', 'score': 0.34}, {'connected_gene': 'GC11P070210', 'score': 0.34}]
chr11 GH11I069635 69635738 69649193 2.5 [{'connected_gene': 'CCND1', 'score': 553.61}, {'connected_gene': 'ORAOV1', 'score': 18.79}, {'connected_gene': 'ANO1', 'score': 9.97}]
chr11 GH11I069355 69355387 69357549 0.81 [{'connected_gene': 'PPP6R3', 'score': 28.37}, {'connected_gene': 'ORAOV1', 'score': 23.91}, {'connected_gene': 'MYEOV', 'score': 23.03}, {'connected_gene': 'MRGPRF', 'score': 18.54}, {'connected_gene': 'ENSG00000260808', 'score': 13.88}, {'connected_gene': 'TPCN2', 'score': 12.98}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.58}, {'connected_gene': 'FADD', 'score': 11.4}, {'connected_gene': 'ENSG00000261625', 'score': 11.02}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'GC11P069370', 'score': 0.39}, {'connected_gene': 'IFITM9P', 'score': 0.23}, {'connected_gene': 'LOC105369370', 'score': 0.22}]
chr11 GH11I070048 70048655 70048984 1.19 [{'connected_gene': 'ANO1', 'score': 8.31}, {'connected_gene': 'FADD', 'score': 4.92}, {'connected_gene': 'LOC101928443', 'score': 0.37}, {'connected_gene': 'ENSG00000254605', 'score': 0.31}]
chr11 GH11I070077 70077761 70082128 2.11 [{'connected_gene': 'ANO1', 'score': 556.35}, {'connected_gene': 'LOC101928443', 'score': 9.26}, {'connected_gene': 'ENSG00000255143', 'score': 0.25}]
chr11 GH11I069992 69992505 69994424 0.38 [{'connected_gene': 'ANO1', 'score': 4.55}, {'connected_gene': 'ENSG00000255191', 'score': 0.44}, {'connected_gene': 'ENSG00000254605', 'score': 0.31}]
chr11 GH11I069972 69971795 69973269 0.7 [{'connected_gene': 'ANO1', 'score': 4.55}, {'connected_gene': 'ENSG00000255191', 'score': 0.39}, {'connected_gene': 'ENSG00000260679', 'score': 0.25}]
chr11 GH11I070117 70117328 70117887 0.2 [{'connected_gene': 'MYEOV', 'score': 4.26}, {'connected_gene': 'ENSG00000255143', 'score': 0.39}, {'connected_gene': 'ANO1', 'score': 0.28}]
chr11 GH11I069292 69292828 69304385 2.31 [{'connected_gene': 'MYEOV', 'score': 550.77}, {'connected_gene': 'LOC105369370', 'score': 550.77}, {'connected_gene': 'ORAOV1', 'score': 53.11}, {'connected_gene': 'TPCN2', 'score': 32.88}, {'connected_gene': 'PPP6R3', 'score': 31.91}, {'connected_gene': 'ENSG00000260808', 'score': 22.89}, {'connected_gene': 'FADD', 'score': 19.91}, {'connected_gene': 'IGHMBP2', 'score': 14.28}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.81}, {'connected_gene': 'MRGPRF', 'score': 9.78}, {'connected_gene': 'ENSG00000260877', 'score': 5.06}, {'connected_gene': 'LOC338694', 'score': 4.39}, {'connected_gene': 'IFITM9P', 'score': 0.44}]
chr11 GH11I070090 70090708 70093205 0.67 [{'connected_gene': 'ORAOV1', 'score': 11.53}, {'connected_gene': 'FADD', 'score': 11.51}, {'connected_gene': 'LOC101928443', 'score': 5.54}, {'connected_gene': 'ANO1', 'score': 5.21}, {'connected_gene': 'ENSG00000255143', 'score': 0.28}]
chr11 GH11I069273 69273699 69275471 1.28 [{'connected_gene': 'ORAOV1', 'score': 32.22}, {'connected_gene': 'PPP6R3', 'score': 31.15}, {'connected_gene': 'ENSG00000260808', 'score': 22.96}, {'connected_gene': 'TPCN2', 'score': 20.96}, {'connected_gene': 'FADD', 'score': 11.4}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.34}, {'connected_gene': 'IGHMBP2', 'score': 10.53}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'MRGPRF', 'score': 9.79}, {'connected_gene': 'GC11M069240', 'score': 0.77}, {'connected_gene': 'MYEOV', 'score': 0.37}]
chr11 GH11I069121 69121672 69124541 1.38 [{'connected_gene': 'ORAOV1', 'score': 10.36}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ANO1', 'score': 9.95}, {'connected_gene': 'LOC338694', 'score': 6.82}, {'connected_gene': 'MRGPRF-AS1', 'score': 4.68}, {'connected_gene': 'PIR51352', 'score': 0.44}, {'connected_gene': 'ENSG00000260895', 'score': 0.37}, {'connected_gene': 'TPCN2', 'score': 0.19}]
chr11 GH11I070101 70101614 70110059 0.7 [{'connected_gene': 'ORAOV1', 'score': 14.19}, {'connected_gene': 'CTTN', 'score': 12.54}, {'connected_gene': 'ANO1', 'score': 6.43}, {'connected_gene': 'FGF4', 'score': 4.97}, {'connected_gene': 'ENSG00000255143', 'score': 0.34}]
chr11 GH11I070122 70122424 70125388 0.65 [{'connected_gene': 'ORAOV1', 'score': 22.64}, {'connected_gene': 'ANO1-AS1', 'score': 11.34}, {'connected_gene': 'ENSG00000255143', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.25}]
chr11 GH11I070396 70396956 70401200 2.35 [{'connected_gene': 'CTTN', 'score': 561.05}, {'connected_gene': 'ENSG00000246889', 'score': 550.77}, {'connected_gene': 'PPFIA1', 'score': 46.9}, {'connected_gene': 'FADD', 'score': 1.98}, {'connected_gene': 'ANO1', 'score': 1.71}, {'connected_gene': 'GC11P070444', 'score': 0.25}]
chr11 GH11I070135 70135817 70136262 0.4 [{'connected_gene': 'LOC105369372', 'score': 0.44}, {'connected_gene': 'ENSG00000255143', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.22}]
chr11 GH11I070139 70139526 70142924 0.87 [{'connected_gene': 'LOC105369372', 'score': 550.77}, {'connected_gene': 'ANO1', 'score': 6.05}, {'connected_gene': 'ENSG00000255143', 'score': 0.39}]
chr11 GH11I070136 70135615 70135764 0.4 [{'connected_gene': 'LOC105369372', 'score': 0.44}, {'connected_gene': 'ENSG00000255143', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.22}]
chr11 GH11I070174 70174420 70175636 0.38 [{'connected_gene': 'LOC101928473', 'score': 550.77}, {'connected_gene': 'FADD', 'score': 11.65}, {'connected_gene': 'ENSG00000254721', 'score': 11.63}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.15}]
chr11 GH11I070096 70096890 70101180 0.49 [{'connected_gene': 'LOC101928443', 'score': 7.17}, {'connected_gene': 'ANO1', 'score': 0.34}, {'connected_gene': 'ENSG00000255143', 'score': 0.29}]
chr11 GH11I069963 69963035 69963784 0.31 [{'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'PPFIA1', 'score': 10.3}, {'connected_gene': 'FGF4', 'score': 9.69}, {'connected_gene': 'ANO1', 'score': 5.55}, {'connected_gene': 'ENSG00000255191', 'score': 0.34}, {'connected_gene': 'ENSG00000260679', 'score': 0.28}]
chr11 GH11I069962 69962355 69962504 0.69 [{'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'PPFIA1', 'score': 10.3}, {'connected_gene': 'FGF4', 'score': 9.69}, {'connected_gene': 'ANO1', 'score': 4.36}, {'connected_gene': 'ENSG00000255191', 'score': 0.34}, {'connected_gene': 'ENSG00000260679', 'score': 0.28}]
chr11 GH11I070154 70154965 70161060 1.04 [{'connected_gene': 'ANO1-AS1', 'score': 11.49}, {'connected_gene': 'FGF4', 'score': 9.83}, {'connected_gene': 'ANO1', 'score': 7.38}, {'connected_gene': 'PPFIA1', 'score': 2.05}, {'connected_gene': 'CTTN', 'score': 1.85}, {'connected_gene': 'FADD', 'score': 1.5}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'LOC105369372', 'score': 0.37}]
chr11 GH11I069944 69944768 69944888 0.24 [{'connected_gene': 'ANO1-AS1', 'score': 10.57}, {'connected_gene': 'FGF4', 'score': 10.12}, {'connected_gene': 'ANO1', 'score': 4.43}, {'connected_gene': 'ENSG00000260679', 'score': 0.37}, {'connected_gene': 'ENSG00000255191', 'score': 0.26}]
chr11 GH11I069945 69943926 69944286 0.36 [{'connected_gene': 'ANO1-AS1', 'score': 10.57}, {'connected_gene': 'FGF4', 'score': 10.12}, {'connected_gene': 'ANO1', 'score': 3.3}, {'connected_gene': 'ENSG00000260679', 'score': 0.37}, {'connected_gene': 'ENSG00000255191', 'score': 0.26}]
chr11 GH11I070082 70082538 70087132 0.56 [{'connected_gene': 'ANO1-AS1', 'score': 10.26}, {'connected_gene': 'LOC101928443', 'score': 9.51}, {'connected_gene': 'ANO1', 'score': 4.75}, {'connected_gene': 'ENSG00000255143', 'score': 0.26}]
chr11 GH11I070119 70119833 70120029 0.84 [{'connected_gene': 'ENSG00000255143', 'score': 0.44}, {'connected_gene': 'ANO1', 'score': 0.26}]
chr11 GH11I070116 70116735 70116964 0.52 [{'connected_gene': 'ENSG00000255143', 'score': 0.39}, {'connected_gene': 'ANO1', 'score': 0.28}]
chr11 GH11I070110 70110652 70113095 1.26 [{'connected_gene': 'ENSG00000255143', 'score': 0.37}, {'connected_gene': 'ANO1', 'score': 0.29}]
chr11 GH11I070072 70072946 70074651 0.82 [{'connected_gene': 'GC11P070077', 'score': 550.77}, {'connected_gene': 'RNU6-1175P', 'score': 550.77}, {'connected_gene': 'ANO1-AS2', 'score': 550.77}, {'connected_gene': 'LOC101928443', 'score': 10.58}, {'connected_gene': 'ANO1', 'score': 5.52}, {'connected_gene': 'LOC105369371', 'score': 0.44}]
chr11 GH11I070127 70127843 70129282 1.14 [{'connected_gene': 'ENSG00000255143', 'score': 550.77}, {'connected_gene': 'ANO1-AS1', 'score': 11.36}, {'connected_gene': 'ANO1', 'score': 0.23}]

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