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1.

rs1491588579 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    15:57711760 (GRCh38)
    15:58003959 (GRCh37)
    Canonical SPDI:
    NC_000015.10:57711760::C
    Gene:
    POLR2M (Varview), GCOM1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000084/1 (ALFA)
    C=0.000015/4 (TOPMED)
    HGVS:

    2.

    rs1491574757 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      15:57704163 (GRCh38)
      15:57996361 (GRCh37)
      Canonical SPDI:
      NC_000015.10:57704158:GAGAGA:GAGA
      Gene:
      GCOM1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGA=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.005/3 (NorthernSweden)
      HGVS:

      3.

      rs1491567859 has merged into rs869161314 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        15:57713832 (GRCh38)
        15:58006030 (GRCh37)
        Canonical SPDI:
        NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57713820:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        POLR2M (Varview), GCOM1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000015.10:g.57713832_57713859del, NC_000015.10:g.57713833_57713859del, NC_000015.10:g.57713834_57713859del, NC_000015.10:g.57713835_57713859del, NC_000015.10:g.57713836_57713859del, NC_000015.10:g.57713837_57713859del, NC_000015.10:g.57713838_57713859del, NC_000015.10:g.57713839_57713859del, NC_000015.10:g.57713840_57713859del, NC_000015.10:g.57713841_57713859del, NC_000015.10:g.57713842_57713859del, NC_000015.10:g.57713843_57713859del, NC_000015.10:g.57713844_57713859del, NC_000015.10:g.57713845_57713859del, NC_000015.10:g.57713846_57713859del, NC_000015.10:g.57713847_57713859del, NC_000015.10:g.57713848_57713859del, NC_000015.10:g.57713849_57713859del, NC_000015.10:g.57713850_57713859del, NC_000015.10:g.57713851_57713859del, NC_000015.10:g.57713852_57713859del, NC_000015.10:g.57713853_57713859del, NC_000015.10:g.57713854_57713859del, NC_000015.10:g.57713855_57713859del, NC_000015.10:g.57713856_57713859del, NC_000015.10:g.57713857_57713859del, NC_000015.10:g.57713858_57713859del, NC_000015.10:g.57713859del, NC_000015.10:g.57713859dup, NC_000015.10:g.57713858_57713859dup, NC_000015.10:g.57713857_57713859dup, NC_000015.10:g.57713856_57713859dup, NC_000015.10:g.57713855_57713859dup, NC_000015.10:g.57713854_57713859dup, NC_000015.10:g.57713853_57713859dup, NC_000015.10:g.57713852_57713859dup, NC_000015.10:g.57713851_57713859dup, NC_000015.10:g.57713850_57713859dup, NC_000015.10:g.57713849_57713859dup, NC_000015.10:g.57713848_57713859dup, NC_000015.10:g.57713847_57713859dup, NC_000015.10:g.57713846_57713859dup, NC_000015.10:g.57713845_57713859dup, NC_000015.10:g.57713843_57713859dup, NC_000015.10:g.57713842_57713859dup, NC_000015.10:g.57713841_57713859dup, NC_000015.10:g.57713839_57713859dup, NC_000015.10:g.57713837_57713859dup, NC_000015.10:g.57713836_57713859dup, NC_000015.9:g.58006030_58006057del, NC_000015.9:g.58006031_58006057del, NC_000015.9:g.58006032_58006057del, NC_000015.9:g.58006033_58006057del, NC_000015.9:g.58006034_58006057del, NC_000015.9:g.58006035_58006057del, NC_000015.9:g.58006036_58006057del, NC_000015.9:g.58006037_58006057del, NC_000015.9:g.58006038_58006057del, NC_000015.9:g.58006039_58006057del, NC_000015.9:g.58006040_58006057del, NC_000015.9:g.58006041_58006057del, NC_000015.9:g.58006042_58006057del, NC_000015.9:g.58006043_58006057del, NC_000015.9:g.58006044_58006057del, NC_000015.9:g.58006045_58006057del, NC_000015.9:g.58006046_58006057del, NC_000015.9:g.58006047_58006057del, NC_000015.9:g.58006048_58006057del, NC_000015.9:g.58006049_58006057del, NC_000015.9:g.58006050_58006057del, NC_000015.9:g.58006051_58006057del, NC_000015.9:g.58006052_58006057del, NC_000015.9:g.58006053_58006057del, NC_000015.9:g.58006054_58006057del, NC_000015.9:g.58006055_58006057del, NC_000015.9:g.58006056_58006057del, NC_000015.9:g.58006057del, NC_000015.9:g.58006057dup, NC_000015.9:g.58006056_58006057dup, NC_000015.9:g.58006055_58006057dup, NC_000015.9:g.58006054_58006057dup, NC_000015.9:g.58006053_58006057dup, NC_000015.9:g.58006052_58006057dup, NC_000015.9:g.58006051_58006057dup, NC_000015.9:g.58006050_58006057dup, NC_000015.9:g.58006049_58006057dup, NC_000015.9:g.58006048_58006057dup, NC_000015.9:g.58006047_58006057dup, NC_000015.9:g.58006046_58006057dup, NC_000015.9:g.58006045_58006057dup, NC_000015.9:g.58006044_58006057dup, NC_000015.9:g.58006043_58006057dup, NC_000015.9:g.58006041_58006057dup, NC_000015.9:g.58006040_58006057dup, NC_000015.9:g.58006039_58006057dup, NC_000015.9:g.58006037_58006057dup, NC_000015.9:g.58006035_58006057dup, NC_000015.9:g.58006034_58006057dup, NG_029676.1:g.12130_12157del, NG_029676.1:g.12131_12157del, NG_029676.1:g.12132_12157del, NG_029676.1:g.12133_12157del, NG_029676.1:g.12134_12157del, NG_029676.1:g.12135_12157del, NG_029676.1:g.12136_12157del, NG_029676.1:g.12137_12157del, NG_029676.1:g.12138_12157del, NG_029676.1:g.12139_12157del, NG_029676.1:g.12140_12157del, NG_029676.1:g.12141_12157del, NG_029676.1:g.12142_12157del, NG_029676.1:g.12143_12157del, NG_029676.1:g.12144_12157del, NG_029676.1:g.12145_12157del, NG_029676.1:g.12146_12157del, NG_029676.1:g.12147_12157del, NG_029676.1:g.12148_12157del, NG_029676.1:g.12149_12157del, NG_029676.1:g.12150_12157del, NG_029676.1:g.12151_12157del, NG_029676.1:g.12152_12157del, NG_029676.1:g.12153_12157del, NG_029676.1:g.12154_12157del, NG_029676.1:g.12155_12157del, NG_029676.1:g.12156_12157del, NG_029676.1:g.12157del, NG_029676.1:g.12157dup, NG_029676.1:g.12156_12157dup, NG_029676.1:g.12155_12157dup, NG_029676.1:g.12154_12157dup, NG_029676.1:g.12153_12157dup, NG_029676.1:g.12152_12157dup, NG_029676.1:g.12151_12157dup, NG_029676.1:g.12150_12157dup, NG_029676.1:g.12149_12157dup, NG_029676.1:g.12148_12157dup, NG_029676.1:g.12147_12157dup, NG_029676.1:g.12146_12157dup, NG_029676.1:g.12145_12157dup, NG_029676.1:g.12144_12157dup, NG_029676.1:g.12143_12157dup, NG_029676.1:g.12141_12157dup, NG_029676.1:g.12140_12157dup, NG_029676.1:g.12139_12157dup, NG_029676.1:g.12137_12157dup, NG_029676.1:g.12135_12157dup, NG_029676.1:g.12134_12157dup

        4.

        rs1491312547 has merged into rs60409692 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          15:57718698 (GRCh38)
          15:58010896 (GRCh37)
          Canonical SPDI:
          NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000015.10:g.57718698_57718709del, NC_000015.10:g.57718699_57718709del, NC_000015.10:g.57718700_57718709del, NC_000015.10:g.57718701_57718709del, NC_000015.10:g.57718702_57718709del, NC_000015.10:g.57718703_57718709del, NC_000015.10:g.57718704_57718709del, NC_000015.10:g.57718705_57718709del, NC_000015.10:g.57718706_57718709del, NC_000015.10:g.57718707_57718709del, NC_000015.10:g.57718708_57718709del, NC_000015.10:g.57718709del, NC_000015.10:g.57718709dup, NC_000015.10:g.57718708_57718709dup, NC_000015.10:g.57718689_57718709T[23]G[4]T[38], NC_000015.10:g.57718707_57718709dup, NC_000015.10:g.57718706_57718709dup, NC_000015.10:g.57718705_57718709dup, NC_000015.10:g.57718704_57718709dup, NC_000015.10:g.57718703_57718709dup, NC_000015.10:g.57718702_57718709dup, NC_000015.10:g.57718692_57718709dup, NC_000015.9:g.58010896_58010907del, NC_000015.9:g.58010897_58010907del, NC_000015.9:g.58010898_58010907del, NC_000015.9:g.58010899_58010907del, NC_000015.9:g.58010900_58010907del, NC_000015.9:g.58010901_58010907del, NC_000015.9:g.58010902_58010907del, NC_000015.9:g.58010903_58010907del, NC_000015.9:g.58010904_58010907del, NC_000015.9:g.58010905_58010907del, NC_000015.9:g.58010906_58010907del, NC_000015.9:g.58010907del, NC_000015.9:g.58010907dup, NC_000015.9:g.58010906_58010907dup, NC_000015.9:g.58010887_58010907T[23]G[4]T[38], NC_000015.9:g.58010905_58010907dup, NC_000015.9:g.58010904_58010907dup, NC_000015.9:g.58010903_58010907dup, NC_000015.9:g.58010902_58010907dup, NC_000015.9:g.58010901_58010907dup, NC_000015.9:g.58010900_58010907dup, NC_000015.9:g.58010890_58010907dup, NG_029676.1:g.16996_17007del, NG_029676.1:g.16997_17007del, NG_029676.1:g.16998_17007del, NG_029676.1:g.16999_17007del, NG_029676.1:g.17000_17007del, NG_029676.1:g.17001_17007del, NG_029676.1:g.17002_17007del, NG_029676.1:g.17003_17007del, NG_029676.1:g.17004_17007del, NG_029676.1:g.17005_17007del, NG_029676.1:g.17006_17007del, NG_029676.1:g.17007del, NG_029676.1:g.17007dup, NG_029676.1:g.17006_17007dup, NG_029676.1:g.16987_17007T[23]G[4]T[38], NG_029676.1:g.17005_17007dup, NG_029676.1:g.17004_17007dup, NG_029676.1:g.17003_17007dup, NG_029676.1:g.17002_17007dup, NG_029676.1:g.17001_17007dup, NG_029676.1:g.17000_17007dup, NG_029676.1:g.16990_17007dup

          5.

          rs1491205976 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CT [Show Flanks]
            Chromosome:
            15:57713821 (GRCh38)
            15:58006020 (GRCh37)
            Canonical SPDI:
            NC_000015.10:57713821:T:TCT
            Gene:
            POLR2M (Varview), GCOM1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            TC=0.00016/2 (TOMMO)
            TC=0.00065/2 (GnomAD)
            HGVS:

            6.

            rs1491130195 has merged into rs60409692 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              15:57718698 (GRCh38)
              15:58010896 (GRCh37)
              Canonical SPDI:
              NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57718688:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000015.10:g.57718698_57718709del, NC_000015.10:g.57718699_57718709del, NC_000015.10:g.57718700_57718709del, NC_000015.10:g.57718701_57718709del, NC_000015.10:g.57718702_57718709del, NC_000015.10:g.57718703_57718709del, NC_000015.10:g.57718704_57718709del, NC_000015.10:g.57718705_57718709del, NC_000015.10:g.57718706_57718709del, NC_000015.10:g.57718707_57718709del, NC_000015.10:g.57718708_57718709del, NC_000015.10:g.57718709del, NC_000015.10:g.57718709dup, NC_000015.10:g.57718708_57718709dup, NC_000015.10:g.57718689_57718709T[23]G[4]T[38], NC_000015.10:g.57718707_57718709dup, NC_000015.10:g.57718706_57718709dup, NC_000015.10:g.57718705_57718709dup, NC_000015.10:g.57718704_57718709dup, NC_000015.10:g.57718703_57718709dup, NC_000015.10:g.57718702_57718709dup, NC_000015.10:g.57718692_57718709dup, NC_000015.9:g.58010896_58010907del, NC_000015.9:g.58010897_58010907del, NC_000015.9:g.58010898_58010907del, NC_000015.9:g.58010899_58010907del, NC_000015.9:g.58010900_58010907del, NC_000015.9:g.58010901_58010907del, NC_000015.9:g.58010902_58010907del, NC_000015.9:g.58010903_58010907del, NC_000015.9:g.58010904_58010907del, NC_000015.9:g.58010905_58010907del, NC_000015.9:g.58010906_58010907del, NC_000015.9:g.58010907del, NC_000015.9:g.58010907dup, NC_000015.9:g.58010906_58010907dup, NC_000015.9:g.58010887_58010907T[23]G[4]T[38], NC_000015.9:g.58010905_58010907dup, NC_000015.9:g.58010904_58010907dup, NC_000015.9:g.58010903_58010907dup, NC_000015.9:g.58010902_58010907dup, NC_000015.9:g.58010901_58010907dup, NC_000015.9:g.58010900_58010907dup, NC_000015.9:g.58010890_58010907dup, NG_029676.1:g.16996_17007del, NG_029676.1:g.16997_17007del, NG_029676.1:g.16998_17007del, NG_029676.1:g.16999_17007del, NG_029676.1:g.17000_17007del, NG_029676.1:g.17001_17007del, NG_029676.1:g.17002_17007del, NG_029676.1:g.17003_17007del, NG_029676.1:g.17004_17007del, NG_029676.1:g.17005_17007del, NG_029676.1:g.17006_17007del, NG_029676.1:g.17007del, NG_029676.1:g.17007dup, NG_029676.1:g.17006_17007dup, NG_029676.1:g.16987_17007T[23]G[4]T[38], NG_029676.1:g.17005_17007dup, NG_029676.1:g.17004_17007dup, NG_029676.1:g.17003_17007dup, NG_029676.1:g.17002_17007dup, NG_029676.1:g.17001_17007dup, NG_029676.1:g.17000_17007dup, NG_029676.1:g.16990_17007dup

              7.

              rs1491039745 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TGTGTG>-,TGTG,TGTGTGTG [Show Flanks]
                Chromosome:
                15:57717937 (GRCh38)
                15:58010135 (GRCh37)
                Canonical SPDI:
                NC_000015.10:57717926:TGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000015.10:57717926:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000015.10:57717926:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG
                Gene:
                POLR2M (Varview), GCOM1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGTGTGTGTG=0.000506/6 (ALFA)
                -=0.000035/1 (TOMMO)
                TG=0.000465/123 (TOPMED)
                TG=0.003066/13 (Estonian)
                HGVS:

                8.

                rs1491023309 has merged into rs11459856 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  15:57711757 (GRCh38)
                  15:58003955 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57711745:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  POLR2M (Varview), GCOM1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  A=0.402955/2018 (1000Genomes)
                  HGVS:
                  NC_000015.10:g.57711757_57711761del, NC_000015.10:g.57711758_57711761del, NC_000015.10:g.57711760_57711761del, NC_000015.10:g.57711761del, NC_000015.10:g.57711761dup, NC_000015.10:g.57711760_57711761dup, NC_000015.10:g.57711759_57711761dup, NC_000015.10:g.57711758_57711761dup, NC_000015.10:g.57711757_57711761dup, NC_000015.10:g.57711756_57711761dup, NC_000015.10:g.57711761_57711762insAAAAAAAAAAAAAAAAA, NC_000015.9:g.58003955_58003959del, NC_000015.9:g.58003956_58003959del, NC_000015.9:g.58003958_58003959del, NC_000015.9:g.58003959del, NC_000015.9:g.58003959dup, NC_000015.9:g.58003958_58003959dup, NC_000015.9:g.58003957_58003959dup, NC_000015.9:g.58003956_58003959dup, NC_000015.9:g.58003955_58003959dup, NC_000015.9:g.58003954_58003959dup, NC_000015.9:g.58003959_58003960insAAAAAAAAAAAAAAAAA, NG_029676.1:g.10055_10059del, NG_029676.1:g.10056_10059del, NG_029676.1:g.10058_10059del, NG_029676.1:g.10059del, NG_029676.1:g.10059dup, NG_029676.1:g.10058_10059dup, NG_029676.1:g.10057_10059dup, NG_029676.1:g.10056_10059dup, NG_029676.1:g.10055_10059dup, NG_029676.1:g.10054_10059dup, NG_029676.1:g.10059_10060insAAAAAAAAAAAAAAAAA

                  9.

                  rs1490998405 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:57710217 (GRCh38)
                    15:58002415 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:57710216:A:G
                    Gene:
                    POLR2M (Varview), GCOM1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490652499 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      15:57717485 (GRCh38)
                      15:58009683 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:57717484:C:A
                      Gene:
                      POLR2M (Varview), GCOM1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000015.10:g.57717485C>A, NC_000015.9:g.58009683C>A, NG_029676.1:g.15783C>A, NM_015532.5:c.*2806C>A, NM_015532.4:c.*2806C>A, NM_015532.3:c.*2806C>A, NM_001018102.3:c.*2806C>A, NM_001018102.2:c.*2806C>A, NM_001018102.1:c.*2806C>A, NM_001018090.6:c.*2806C>A, NM_001018090.5:c.*2806C>A, NM_001018090.4:c.*2806C>A, NM_001018091.6:c.*2916C>A, NM_001018091.5:c.*2916C>A, NM_001018091.4:c.*2916C>A, NR_104371.3:n.6025C>A, NR_104371.2:n.6025C>A, NR_104371.1:n.6025C>A, NM_001285900.3:c.*2806C>A, NM_001285900.2:c.*2806C>A, NM_001285900.1:c.*2806C>A, NR_104367.2:n.5369C>A, NR_104367.1:n.5369C>A, NR_104368.2:n.4563C>A, NR_104368.1:n.4563C>A, NR_104369.2:n.4489C>A, NR_104369.1:n.4489C>A, NR_104370.2:n.4405C>A, NR_104370.1:n.4405C>A, NM_001018097.1:c.*4577C>A, NM_001018098.1:c.*4065C>A, NM_001018092.1:c.*3187C>A, NM_001018093.1:c.*3134C>A, NM_001018094.1:c.*3134C>A, NR_027390.1:n.4243C>A

                      11.

                      rs1490640069 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        15:57716214 (GRCh38)
                        15:58008412 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:57716213:TT:T
                        Gene:
                        POLR2M (Varview), GCOM1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0.000084/1 (ALFA)
                        -=0.000064/17 (TOPMED)
                        -=0.000071/10 (GnomAD)
                        HGVS:
                        NC_000015.10:g.57716215del, NC_000015.9:g.58008413del, NG_029676.1:g.14513del, NM_015532.5:c.*1536del, NM_015532.4:c.*1536del, NM_015532.3:c.*1536del, NM_001018102.3:c.*1536del, NM_001018102.2:c.*1536del, NM_001018102.1:c.*1536del, NM_001018090.6:c.*1536del, NM_001018090.5:c.*1536del, NM_001018090.4:c.*1536del, NM_001018091.6:c.*1646del, NM_001018091.5:c.*1646del, NM_001018091.4:c.*1646del, NR_104371.3:n.4755del, NR_104371.2:n.4755del, NR_104371.1:n.4755del, NM_001285900.3:c.*1536del, NM_001285900.2:c.*1536del, NM_001285900.1:c.*1536del, NR_104367.2:n.4099del, NR_104367.1:n.4099del, NR_104368.2:n.3293del, NR_104368.1:n.3293del, NR_104369.2:n.3219del, NR_104369.1:n.3219del, NR_104370.2:n.3135del, NR_104370.1:n.3135del, NM_001018097.1:c.*3307del, NM_001018098.1:c.*2795del, NM_001018092.1:c.*1917del, NM_001018093.1:c.*1864del, NM_001018094.1:c.*1864del, NR_027390.1:n.2973del

                        12.

                        rs1490580552 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          15:57716718 (GRCh38)
                          15:58008916 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:57716717:T:A,NC_000015.10:57716717:T:C
                          Gene:
                          POLR2M (Varview), GCOM1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000015.10:g.57716718T>A, NC_000015.10:g.57716718T>C, NC_000015.9:g.58008916T>A, NC_000015.9:g.58008916T>C, NG_029676.1:g.15016T>A, NG_029676.1:g.15016T>C, NM_015532.5:c.*2039T>A, NM_015532.5:c.*2039T>C, NM_015532.4:c.*2039T>A, NM_015532.4:c.*2039T>C, NM_015532.3:c.*2039T>A, NM_015532.3:c.*2039T>C, NM_001018102.3:c.*2039T>A, NM_001018102.3:c.*2039T>C, NM_001018102.2:c.*2039T>A, NM_001018102.2:c.*2039T>C, NM_001018102.1:c.*2039T>A, NM_001018102.1:c.*2039T>C, NM_001018090.6:c.*2039T>A, NM_001018090.6:c.*2039T>C, NM_001018090.5:c.*2039T>A, NM_001018090.5:c.*2039T>C, NM_001018090.4:c.*2039T>A, NM_001018090.4:c.*2039T>C, NM_001018091.6:c.*2149T>A, NM_001018091.6:c.*2149T>C, NM_001018091.5:c.*2149T>A, NM_001018091.5:c.*2149T>C, NM_001018091.4:c.*2149T>A, NM_001018091.4:c.*2149T>C, NR_104371.3:n.5258T>A, NR_104371.3:n.5258T>C, NR_104371.2:n.5258T>A, NR_104371.2:n.5258T>C, NR_104371.1:n.5258T>A, NR_104371.1:n.5258T>C, NM_001285900.3:c.*2039T>A, NM_001285900.3:c.*2039T>C, NM_001285900.2:c.*2039T>A, NM_001285900.2:c.*2039T>C, NM_001285900.1:c.*2039T>A, NM_001285900.1:c.*2039T>C, NR_104367.2:n.4602T>A, NR_104367.2:n.4602T>C, NR_104367.1:n.4602T>A, NR_104367.1:n.4602T>C, NR_104368.2:n.3796T>A, NR_104368.2:n.3796T>C, NR_104368.1:n.3796T>A, NR_104368.1:n.3796T>C, NR_104369.2:n.3722T>A, NR_104369.2:n.3722T>C, NR_104369.1:n.3722T>A, NR_104369.1:n.3722T>C, NR_104370.2:n.3638T>A, NR_104370.2:n.3638T>C, NR_104370.1:n.3638T>A, NR_104370.1:n.3638T>C, NM_001018097.1:c.*3810T>A, NM_001018097.1:c.*3810T>C, NM_001018098.1:c.*3298T>A, NM_001018098.1:c.*3298T>C, NM_001018092.1:c.*2420T>A, NM_001018092.1:c.*2420T>C, NM_001018093.1:c.*2367T>A, NM_001018093.1:c.*2367T>C, NM_001018094.1:c.*2367T>A, NM_001018094.1:c.*2367T>C, NR_027390.1:n.3476T>A, NR_027390.1:n.3476T>C

                          13.

                          rs1490507846 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            15:57710730 (GRCh38)
                            15:58002928 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:57710729:A:G
                            Gene:
                            POLR2M (Varview), GCOM1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490206568 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              15:57711553 (GRCh38)
                              15:58003751 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:57711552:C:G
                              Gene:
                              POLR2M (Varview), GCOM1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490162695 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:57717800 (GRCh38)
                                15:58009998 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:57717799:G:A
                                Gene:
                                POLR2M (Varview), GCOM1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000026/7 (TOPMED)
                                HGVS:

                                16.

                                rs1490097616 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  15:57715495 (GRCh38)
                                  15:58007693 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:57715494:G:A,NC_000015.10:57715494:G:C
                                  Gene:
                                  POLR2M (Varview), GCOM1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.57715495G>A, NC_000015.10:g.57715495G>C, NC_000015.9:g.58007693G>A, NC_000015.9:g.58007693G>C, NG_029676.1:g.13793G>A, NG_029676.1:g.13793G>C, NM_015532.5:c.*816G>A, NM_015532.5:c.*816G>C, NM_015532.4:c.*816G>A, NM_015532.4:c.*816G>C, NM_015532.3:c.*816G>A, NM_015532.3:c.*816G>C, NM_001018102.3:c.*816G>A, NM_001018102.3:c.*816G>C, NM_001018102.2:c.*816G>A, NM_001018102.2:c.*816G>C, NM_001018102.1:c.*816G>A, NM_001018102.1:c.*816G>C, NM_001018090.6:c.*816G>A, NM_001018090.6:c.*816G>C, NM_001018090.5:c.*816G>A, NM_001018090.5:c.*816G>C, NM_001018090.4:c.*816G>A, NM_001018090.4:c.*816G>C, NM_001018091.6:c.*926G>A, NM_001018091.6:c.*926G>C, NM_001018091.5:c.*926G>A, NM_001018091.5:c.*926G>C, NM_001018091.4:c.*926G>A, NM_001018091.4:c.*926G>C, NR_104371.3:n.4035G>A, NR_104371.3:n.4035G>C, NR_104371.2:n.4035G>A, NR_104371.2:n.4035G>C, NR_104371.1:n.4035G>A, NR_104371.1:n.4035G>C, NM_001285900.3:c.*816G>A, NM_001285900.3:c.*816G>C, NM_001285900.2:c.*816G>A, NM_001285900.2:c.*816G>C, NM_001285900.1:c.*816G>A, NM_001285900.1:c.*816G>C, NR_104367.2:n.3379G>A, NR_104367.2:n.3379G>C, NR_104367.1:n.3379G>A, NR_104367.1:n.3379G>C, NR_104368.2:n.2573G>A, NR_104368.2:n.2573G>C, NR_104368.1:n.2573G>A, NR_104368.1:n.2573G>C, NR_104369.2:n.2499G>A, NR_104369.2:n.2499G>C, NR_104369.1:n.2499G>A, NR_104369.1:n.2499G>C, NR_104370.2:n.2415G>A, NR_104370.2:n.2415G>C, NR_104370.1:n.2415G>A, NR_104370.1:n.2415G>C, NM_001018097.1:c.*2587G>A, NM_001018097.1:c.*2587G>C, NM_001018098.1:c.*2075G>A, NM_001018098.1:c.*2075G>C, NM_001018092.1:c.*1197G>A, NM_001018092.1:c.*1197G>C, NM_001018093.1:c.*1144G>A, NM_001018093.1:c.*1144G>C, NM_001018094.1:c.*1144G>A, NM_001018094.1:c.*1144G>C, NR_027390.1:n.2253G>A, NR_027390.1:n.2253G>C

                                  17.

                                  rs1490057825 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    15:57704001 (GRCh38)
                                    15:57996199 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:57704000:G:C
                                    Gene:
                                    GCOM1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489946122 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      15:57702178 (GRCh38)
                                      15:57994376 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:57702177:C:A,NC_000015.10:57702177:C:G
                                      Gene:
                                      GCOM1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489692506 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        15:57702505 (GRCh38)
                                        15:57994703 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:57702504:A:T
                                        Gene:
                                        GCOM1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489680051 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          15:57712764 (GRCh38)
                                          15:58004962 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:57712763:A:C,NC_000015.10:57712763:A:G
                                          Gene:
                                          POLR2M (Varview), GCOM1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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