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Items: 1 to 20 of 5615

1.

rs1491416717 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    14:36658374 (GRCh38)
    14:37127580 (GRCh37)
    Canonical SPDI:
    NC_000014.9:36658374::T
    Gene:
    PAX9 (Varview), LOC105370455 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.00002/2 (GnomAD)
    HGVS:

    2.

    rs1491324927 has merged into rs36065207 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
      Chromosome:
      14:36658382 (GRCh38)
      14:37127587 (GRCh37)
      Canonical SPDI:
      NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000014.9:36658373:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
      Gene:
      PAX9 (Varview), LOC105370455 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGGGG=0./0 (ALFA)
      HGVS:
      NC_000014.9:g.36658382_36658385del, NC_000014.9:g.36658383_36658385del, NC_000014.9:g.36658384_36658385del, NC_000014.9:g.36658385del, NC_000014.9:g.36658385dup, NC_000014.9:g.36658384_36658385dup, NC_000014.9:g.36658383_36658385dup, NC_000014.9:g.36658382_36658385dup, NC_000014.9:g.36658381_36658385dup, NC_000014.8:g.37127587_37127590del, NC_000014.8:g.37127588_37127590del, NC_000014.8:g.37127589_37127590del, NC_000014.8:g.37127590del, NC_000014.8:g.37127590dup, NC_000014.8:g.37127589_37127590dup, NC_000014.8:g.37127588_37127590dup, NC_000014.8:g.37127587_37127590dup, NC_000014.8:g.37127586_37127590dup, NG_013357.1:g.5815_5818del, NG_013357.1:g.5816_5818del, NG_013357.1:g.5817_5818del, NG_013357.1:g.5818del, NG_013357.1:g.5818dup, NG_013357.1:g.5817_5818dup, NG_013357.1:g.5816_5818dup, NG_013357.1:g.5815_5818dup, NG_013357.1:g.5814_5818dup

      3.

      rs1491167773 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CC>- [Show Flanks]
        Chromosome:
        14:36673529 (GRCh38)
        14:37142734 (GRCh37)
        Canonical SPDI:
        NC_000014.9:36673528:CC:
        Gene:
        PAX9 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.00031/2 (1000Genomes)
        -=0.00388/15 (GnomAD)
        -=0.01549/28 (Korea1K)
        -=0.01929/323 (TOMMO)
        HGVS:

        4.

        rs1491131138 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          14:36665167 (GRCh38)
          14:37134372 (GRCh37)
          Canonical SPDI:
          NC_000014.9:36665166:GA:
          Gene:
          PAX9 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491013578 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->ACATCTCTGGGCAAAAAGAG,TTCTTTTTGCCCAGAGATGTTCCCC,TTCTTTTTGCCCAGAGATGTTCCCCC [Show Flanks]
            Chromosome:
            14:36673532 (GRCh38)
            14:37142738 (GRCh37)
            Canonical SPDI:
            NC_000014.9:36673532::ACATCTCTGGGCAAAAAGAG,NC_000014.9:36673532::TTCTTTTTGCCCAGAGATGTTCCCC,NC_000014.9:36673532::TTCTTTTTGCCCAGAGATGTTCCCCC
            Gene:
            PAX9 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            ACATCTCTGGGCAAAAAGAG=0.0003/1 (GnomAD)
            HGVS:

            6.

            rs1490943994 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:36666369 (GRCh38)
              14:37135574 (GRCh37)
              Canonical SPDI:
              NC_000014.9:36666368:C:A
              Gene:
              PAX9 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1490723652 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                14:36665423 (GRCh38)
                14:37134628 (GRCh37)
                Canonical SPDI:
                NC_000014.9:36665422:A:C,NC_000014.9:36665422:A:G,NC_000014.9:36665422:A:T
                Gene:
                PAX9 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                C=0.000389/7 (TOMMO)
                HGVS:

                8.

                rs1490676237 has merged into rs370186850 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TCTGCAGCTTCGGCTTCTCTTGCTCCCAG>- [Show Flanks]
                  Chromosome:
                  14:36659454 (GRCh38)
                  14:37128659 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:36659452:GTCTGCAGCTTCGGCTTCTCTTGCTCCCAG:G
                  Gene:
                  PAX9 (Varview), LOC105370455 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  -=0.000043/6 (GnomAD)
                  -=0.000057/15 (TOPMED)
                  HGVS:

                  9.

                  rs1490643435 has merged into rs3061562 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    14:36672862 (GRCh38)
                    14:37142067 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:36672852:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    PAX9 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    -=0.2647/9 (GENOME_DK)
                    HGVS:
                    NC_000014.9:g.36672862_36672882del, NC_000014.9:g.36672864_36672882del, NC_000014.9:g.36672865_36672882del, NC_000014.9:g.36672866_36672882del, NC_000014.9:g.36672867_36672882del, NC_000014.9:g.36672868_36672882del, NC_000014.9:g.36672869_36672882del, NC_000014.9:g.36672870_36672882del, NC_000014.9:g.36672871_36672882del, NC_000014.9:g.36672872_36672882del, NC_000014.9:g.36672873_36672882del, NC_000014.9:g.36672874_36672882del, NC_000014.9:g.36672875_36672882del, NC_000014.9:g.36672876_36672882del, NC_000014.9:g.36672877_36672882del, NC_000014.9:g.36672878_36672882del, NC_000014.9:g.36672879_36672882del, NC_000014.9:g.36672880_36672882del, NC_000014.9:g.36672881_36672882del, NC_000014.9:g.36672882del, NC_000014.9:g.36672882dup, NC_000014.9:g.36672853_36672882T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672881_36672882dup, NC_000014.9:g.36672880_36672882dup, NC_000014.9:g.36672879_36672882dup, NC_000014.9:g.36672853_36672882T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672853_36672882T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672878_36672882dup, NC_000014.9:g.36672877_36672882dup, NC_000014.9:g.36672876_36672882dup, NC_000014.9:g.36672853_36672882T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672875_36672882dup, NC_000014.9:g.36672874_36672882dup, NC_000014.9:g.36672873_36672882dup, NC_000014.9:g.36672872_36672882dup, NC_000014.9:g.36672871_36672882dup, NC_000014.9:g.36672853_36672882T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672870_36672882dup, NC_000014.9:g.36672853_36672882T[43]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672869_36672882dup, NC_000014.9:g.36672853_36672882T[44]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672868_36672882dup, NC_000014.9:g.36672853_36672882T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672866_36672882dup, NC_000014.9:g.36672865_36672882dup, NC_000014.9:g.36672864_36672882dup, NC_000014.9:g.36672863_36672882dup, NC_000014.9:g.36672853_36672882T[50]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672862_36672882dup, NC_000014.9:g.36672853_36672882T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672861_36672882dup, NC_000014.9:g.36672860_36672882dup, NC_000014.9:g.36672853_36672882T[53]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672859_36672882dup, NC_000014.9:g.36672853_36672882T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672853_36672882T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672858_36672882dup, NC_000014.9:g.36672857_36672882dup, NC_000014.9:g.36672853_36672882T[56]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.36672856_36672882dup, NC_000014.9:g.36672855_36672882dup, NC_000014.9:g.36672854_36672882dup, NC_000014.9:g.36672853_36672882dup, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.36672882_36672883insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142067_37142087del, NC_000014.8:g.37142069_37142087del, NC_000014.8:g.37142070_37142087del, NC_000014.8:g.37142071_37142087del, NC_000014.8:g.37142072_37142087del, NC_000014.8:g.37142073_37142087del, NC_000014.8:g.37142074_37142087del, NC_000014.8:g.37142075_37142087del, NC_000014.8:g.37142076_37142087del, NC_000014.8:g.37142077_37142087del, NC_000014.8:g.37142078_37142087del, NC_000014.8:g.37142079_37142087del, NC_000014.8:g.37142080_37142087del, NC_000014.8:g.37142081_37142087del, NC_000014.8:g.37142082_37142087del, NC_000014.8:g.37142083_37142087del, NC_000014.8:g.37142084_37142087del, NC_000014.8:g.37142085_37142087del, NC_000014.8:g.37142086_37142087del, NC_000014.8:g.37142087del, NC_000014.8:g.37142087dup, NC_000014.8:g.37142058_37142087T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142086_37142087dup, NC_000014.8:g.37142085_37142087dup, NC_000014.8:g.37142084_37142087dup, NC_000014.8:g.37142058_37142087T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142058_37142087T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142083_37142087dup, NC_000014.8:g.37142082_37142087dup, NC_000014.8:g.37142081_37142087dup, NC_000014.8:g.37142058_37142087T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142080_37142087dup, NC_000014.8:g.37142079_37142087dup, NC_000014.8:g.37142078_37142087dup, NC_000014.8:g.37142077_37142087dup, NC_000014.8:g.37142076_37142087dup, NC_000014.8:g.37142058_37142087T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142075_37142087dup, NC_000014.8:g.37142058_37142087T[43]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142074_37142087dup, NC_000014.8:g.37142058_37142087T[44]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142073_37142087dup, NC_000014.8:g.37142058_37142087T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142071_37142087dup, NC_000014.8:g.37142070_37142087dup, NC_000014.8:g.37142069_37142087dup, NC_000014.8:g.37142068_37142087dup, NC_000014.8:g.37142058_37142087T[50]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142067_37142087dup, NC_000014.8:g.37142058_37142087T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142066_37142087dup, NC_000014.8:g.37142065_37142087dup, NC_000014.8:g.37142058_37142087T[53]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142064_37142087dup, NC_000014.8:g.37142058_37142087T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142058_37142087T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142063_37142087dup, NC_000014.8:g.37142062_37142087dup, NC_000014.8:g.37142058_37142087T[56]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.37142061_37142087dup, NC_000014.8:g.37142060_37142087dup, NC_000014.8:g.37142059_37142087dup, NC_000014.8:g.37142058_37142087dup, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.37142087_37142088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20295_20315del, NG_013357.1:g.20297_20315del, NG_013357.1:g.20298_20315del, NG_013357.1:g.20299_20315del, NG_013357.1:g.20300_20315del, NG_013357.1:g.20301_20315del, NG_013357.1:g.20302_20315del, NG_013357.1:g.20303_20315del, NG_013357.1:g.20304_20315del, NG_013357.1:g.20305_20315del, NG_013357.1:g.20306_20315del, NG_013357.1:g.20307_20315del, NG_013357.1:g.20308_20315del, NG_013357.1:g.20309_20315del, NG_013357.1:g.20310_20315del, NG_013357.1:g.20311_20315del, NG_013357.1:g.20312_20315del, NG_013357.1:g.20313_20315del, NG_013357.1:g.20314_20315del, NG_013357.1:g.20315del, NG_013357.1:g.20315dup, NG_013357.1:g.20286_20315T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20314_20315dup, NG_013357.1:g.20313_20315dup, NG_013357.1:g.20312_20315dup, NG_013357.1:g.20286_20315T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20286_20315T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20311_20315dup, NG_013357.1:g.20310_20315dup, NG_013357.1:g.20309_20315dup, NG_013357.1:g.20286_20315T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20308_20315dup, NG_013357.1:g.20307_20315dup, NG_013357.1:g.20306_20315dup, NG_013357.1:g.20305_20315dup, NG_013357.1:g.20304_20315dup, NG_013357.1:g.20286_20315T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20303_20315dup, NG_013357.1:g.20286_20315T[43]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20302_20315dup, NG_013357.1:g.20286_20315T[44]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20301_20315dup, NG_013357.1:g.20286_20315T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20299_20315dup, NG_013357.1:g.20298_20315dup, NG_013357.1:g.20297_20315dup, NG_013357.1:g.20296_20315dup, NG_013357.1:g.20286_20315T[50]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20295_20315dup, NG_013357.1:g.20286_20315T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20294_20315dup, NG_013357.1:g.20293_20315dup, NG_013357.1:g.20286_20315T[53]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20292_20315dup, NG_013357.1:g.20286_20315T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20286_20315T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20291_20315dup, NG_013357.1:g.20290_20315dup, NG_013357.1:g.20286_20315T[56]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013357.1:g.20289_20315dup, NG_013357.1:g.20288_20315dup, NG_013357.1:g.20287_20315dup, NG_013357.1:g.20286_20315dup, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013357.1:g.20315_20316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                    10.

                    rs1490471591 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      14:36665973 (GRCh38)
                      14:37135178 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:36665972:C:G
                      Gene:
                      PAX9 (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:

                      11.

                      rs1490345405 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        14:36660254 (GRCh38)
                        14:37129459 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:36660253:A:T
                        Gene:
                        PAX9 (Varview), LOC105370455 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490312772 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          14:36673506 (GRCh38)
                          14:37142711 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:36673505:A:C
                          Gene:
                          PAX9 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490125980 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:36666749 (GRCh38)
                            14:37135954 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:36666748:A:G
                            Gene:
                            PAX9 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1490097027 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAG>- [Show Flanks]
                              Chromosome:
                              14:36666296 (GRCh38)
                              14:37135501 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:36666294:GAAG:G
                              Gene:
                              PAX9 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              -=0.000021/3 (GnomAD)
                              HGVS:

                              15.

                              rs1489940441 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                14:36663105 (GRCh38)
                                14:37132310 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:36663104:C:A
                                Gene:
                                PAX9 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1489885387 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GCC>- [Show Flanks]
                                  Chromosome:
                                  14:36666539 (GRCh38)
                                  14:37135744 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:36666530:CCGCCGCCGCC:CCGCCGCC
                                  Gene:
                                  PAX9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,inframe_deletion
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000009/2 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1489825997 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    14:36673078 (GRCh38)
                                    14:37142283 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:36673077:C:G
                                    Gene:
                                    PAX9 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489753632 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      14:36674021 (GRCh38)
                                      14:37143226 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:36674020:A:G
                                      Gene:
                                      PAX9 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.00003/8 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489682683 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:36662064 (GRCh38)
                                        14:37131269 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:36662063:G:A
                                        Gene:
                                        PAX9 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000006/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489676913 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:36668966 (GRCh38)
                                          14:37138171 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:36668965:A:G
                                          Gene:
                                          PAX9 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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