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1.

rs1491577581 has merged into rs371588622 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
    Chromosome:
    19:9523030 (GRCh38)
    19:9633706 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
    Gene:
    ZNF426 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACAC=0./0 (ALFA)
    HGVS:
    NC_000019.10:g.9523020AC[5], NC_000019.10:g.9523020AC[7], NC_000019.10:g.9523020AC[8], NC_000019.10:g.9523020AC[9], NC_000019.10:g.9523020AC[10], NC_000019.10:g.9523020AC[11], NC_000019.10:g.9523020AC[12], NC_000019.10:g.9523020AC[13], NC_000019.10:g.9523020AC[14], NC_000019.10:g.9523020AC[15], NC_000019.10:g.9523020AC[16], NC_000019.10:g.9523020AC[17], NC_000019.10:g.9523020AC[18], NC_000019.10:g.9523020AC[19], NC_000019.10:g.9523020AC[21], NC_000019.10:g.9523020AC[22], NC_000019.10:g.9523020AC[23], NC_000019.10:g.9523020AC[24], NC_000019.10:g.9523020AC[25], NC_000019.10:g.9523020AC[26], NC_000019.10:g.9523020AC[27], NC_000019.10:g.9523020AC[28], NC_000019.10:g.9523020AC[30], NC_000019.10:g.9523020AC[31], NC_000019.9:g.9633696AC[5], NC_000019.9:g.9633696AC[7], NC_000019.9:g.9633696AC[8], NC_000019.9:g.9633696AC[9], NC_000019.9:g.9633696AC[10], NC_000019.9:g.9633696AC[11], NC_000019.9:g.9633696AC[12], NC_000019.9:g.9633696AC[13], NC_000019.9:g.9633696AC[14], NC_000019.9:g.9633696AC[15], NC_000019.9:g.9633696AC[16], NC_000019.9:g.9633696AC[17], NC_000019.9:g.9633696AC[18], NC_000019.9:g.9633696AC[19], NC_000019.9:g.9633696AC[21], NC_000019.9:g.9633696AC[22], NC_000019.9:g.9633696AC[23], NC_000019.9:g.9633696AC[24], NC_000019.9:g.9633696AC[25], NC_000019.9:g.9633696AC[26], NC_000019.9:g.9633696AC[27], NC_000019.9:g.9633696AC[28], NC_000019.9:g.9633696AC[30], NC_000019.9:g.9633696AC[31]
    2.

    rs1491183334 has merged into rs371588622 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
      Chromosome:
      19:9523030 (GRCh38)
      19:9633706 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
      Gene:
      ZNF426 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACACACACACACAC=0./0 (ALFA)
      HGVS:
      NC_000019.10:g.9523020AC[5], NC_000019.10:g.9523020AC[7], NC_000019.10:g.9523020AC[8], NC_000019.10:g.9523020AC[9], NC_000019.10:g.9523020AC[10], NC_000019.10:g.9523020AC[11], NC_000019.10:g.9523020AC[12], NC_000019.10:g.9523020AC[13], NC_000019.10:g.9523020AC[14], NC_000019.10:g.9523020AC[15], NC_000019.10:g.9523020AC[16], NC_000019.10:g.9523020AC[17], NC_000019.10:g.9523020AC[18], NC_000019.10:g.9523020AC[19], NC_000019.10:g.9523020AC[21], NC_000019.10:g.9523020AC[22], NC_000019.10:g.9523020AC[23], NC_000019.10:g.9523020AC[24], NC_000019.10:g.9523020AC[25], NC_000019.10:g.9523020AC[26], NC_000019.10:g.9523020AC[27], NC_000019.10:g.9523020AC[28], NC_000019.10:g.9523020AC[30], NC_000019.10:g.9523020AC[31], NC_000019.9:g.9633696AC[5], NC_000019.9:g.9633696AC[7], NC_000019.9:g.9633696AC[8], NC_000019.9:g.9633696AC[9], NC_000019.9:g.9633696AC[10], NC_000019.9:g.9633696AC[11], NC_000019.9:g.9633696AC[12], NC_000019.9:g.9633696AC[13], NC_000019.9:g.9633696AC[14], NC_000019.9:g.9633696AC[15], NC_000019.9:g.9633696AC[16], NC_000019.9:g.9633696AC[17], NC_000019.9:g.9633696AC[18], NC_000019.9:g.9633696AC[19], NC_000019.9:g.9633696AC[21], NC_000019.9:g.9633696AC[22], NC_000019.9:g.9633696AC[23], NC_000019.9:g.9633696AC[24], NC_000019.9:g.9633696AC[25], NC_000019.9:g.9633696AC[26], NC_000019.9:g.9633696AC[27], NC_000019.9:g.9633696AC[28], NC_000019.9:g.9633696AC[30], NC_000019.9:g.9633696AC[31]
      3.

      rs1491156662 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AC,ACAC,ACACACACAC,CC [Show Flanks]
        Chromosome:
        19:9523016 (GRCh38)
        19:9633693 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9523016:C:CAC,NC_000019.10:9523016:C:CACAC,NC_000019.10:9523016:C:CACACACACAC,NC_000019.10:9523016:C:CCC
        Gene:
        ZNF426 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CACAC=0./0 (ALFA)
        CACACACACA=0.00007/1 (TOMMO)
        HGVS:
        4.

        rs1490802709 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:9538938 (GRCh38)
          19:9649614 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9538937:C:T
          Gene:
          ZNF426 (Varview), ZNF426-DT (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          6.

          rs1490426432 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            19:9524753 (GRCh38)
            19:9635429 (GRCh37)
            Canonical SPDI:
            NC_000019.10:9524752:C:A
            Gene:
            ZNF426 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000032/4 (GnomAD)
            HGVS:
            7.

            rs1490407449 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGT>- [Show Flanks]
              Chromosome:
              19:9528305 (GRCh38)
              19:9638981 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9528300:GAGTGAGT:GAGT
              Gene:
              ZNF426 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GAGTGAGT=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.000023/6 (TOPMED)
              HGVS:
              8.

              rs1490263612 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                19:9523710 (GRCh38)
                19:9634386 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9523709:G:C
                Gene:
                ZNF426 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                9.

                rs1489971884 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:9534518 (GRCh38)
                  19:9645194 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:9534517:A:G
                  Gene:
                  ZNF426 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  10.

                  rs1489668692 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:9538959 (GRCh38)
                    19:9649635 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9538958:A:G
                    Gene:
                    ZNF426 (Varview), ZNF426-DT (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000066/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    G=0.000223/1 (Estonian)
                    HGVS:
                    11.

                    rs1489645799 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:9530200 (GRCh38)
                      19:9640876 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9530199:C:T
                      Gene:
                      ZNF426 (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)
                      HGVS:
                      12.

                      rs1489375914 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        19:9537126 (GRCh38)
                        19:9647802 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9537125:T:A
                        Gene:
                        ZNF426 (Varview), ZNF426-DT (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.0002/1 (ALFA)
                        A=0.0002/1 (Estonian)
                        HGVS:
                        13.

                        rs1489077025 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:9530583 (GRCh38)
                          19:9641259 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9530582:A:G
                          Gene:
                          ZNF426 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          14.

                          rs1488875011 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:9536419 (GRCh38)
                            19:9647095 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:9536418:C:T
                            Gene:
                            ZNF426 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            T=0.000212/4 (TOMMO)
                            HGVS:
                            15.

                            rs1488325841 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              19:9536938 (GRCh38)
                              19:9647614 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9536937:G:A,NC_000019.10:9536937:G:T
                              Gene:
                              ZNF426 (Varview), ZNF426-DT (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              T=0.00006/1 (TOMMO)
                              HGVS:
                              16.

                              rs1488283800 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:9529624 (GRCh38)
                                19:9640300 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9529623:T:C
                                Gene:
                                ZNF426 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1488233881 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:9528932 (GRCh38)
                                  19:9639608 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9528931:T:C
                                  Gene:
                                  ZNF426 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1488186519 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:9535336 (GRCh38)
                                    19:9646012 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9535335:T:C
                                    Gene:
                                    ZNF426 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1487785225 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:9526011 (GRCh38)
                                      19:9636687 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9526010:C:T
                                      Gene:
                                      ZNF426 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      20.

                                      rs1487706406 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:9537002 (GRCh38)
                                        19:9647678 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9537001:C:T
                                        Gene:
                                        ZNF426 (Varview), ZNF426-DT (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000026/7 (TOPMED)
                                        HGVS:

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