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1.

rs1491499087 has merged into rs1461726380 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATAT>-,AT,ATATAT [Show Flanks]
    Chromosome:
    19:58524433 (GRCh38)
    19:59035800 (GRCh37)
    Canonical SPDI:
    NC_000019.10:58524430:ATATAT:AT,NC_000019.10:58524430:ATATAT:ATAT,NC_000019.10:58524430:ATATAT:ATATATAT
    Gene:
    ZBTB45 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AT=0./0 (ALFA)
    -=0.00593/98 (TOMMO)
    -=0.01365/25 (Korea1K)
    HGVS:
    2.

    rs1491487639 has merged into rs1180915172 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      19:58521375 (GRCh38)
      19:59032742 (GRCh37)
      Canonical SPDI:
      NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ZBTB45 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.58521375_58521384del, NC_000019.10:g.58521378_58521384del, NC_000019.10:g.58521382_58521384del, NC_000019.10:g.58521383_58521384del, NC_000019.10:g.58521384del, NC_000019.10:g.58521384dup, NC_000019.10:g.58521383_58521384dup, NC_000019.10:g.58521382_58521384dup, NC_000019.10:g.58521381_58521384dup, NC_000019.10:g.58521380_58521384dup, NC_000019.10:g.58521379_58521384dup, NC_000019.10:g.58521378_58521384dup, NC_000019.10:g.58521377_58521384dup, NC_000019.10:g.58521376_58521384dup, NC_000019.9:g.59032742_59032751del, NC_000019.9:g.59032745_59032751del, NC_000019.9:g.59032749_59032751del, NC_000019.9:g.59032750_59032751del, NC_000019.9:g.59032751del, NC_000019.9:g.59032751dup, NC_000019.9:g.59032750_59032751dup, NC_000019.9:g.59032749_59032751dup, NC_000019.9:g.59032748_59032751dup, NC_000019.9:g.59032747_59032751dup, NC_000019.9:g.59032746_59032751dup, NC_000019.9:g.59032745_59032751dup, NC_000019.9:g.59032744_59032751dup, NC_000019.9:g.59032743_59032751dup
      3.

      rs1491468530 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        19:58521366 (GRCh38)
        19:59032733 (GRCh37)
        Canonical SPDI:
        NC_000019.10:58521365:CA:
        Gene:
        ZBTB45 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00126/15 (ALFA)
        HGVS:
        4.

        rs1491458297 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GT,GTGT,GTGTGT,GTGTGTGTGT [Show Flanks]
          Chromosome:
          19:58524431 (GRCh38)
          19:59035799 (GRCh37)
          Canonical SPDI:
          NC_000019.10:58524431:T:TGT,NC_000019.10:58524431:T:TGTGT,NC_000019.10:58524431:T:TGTGTGT,NC_000019.10:58524431:T:TGTGTGTGTGT
          Gene:
          ZBTB45 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGT=0./0 (ALFA)
          TGTGTGTGTG=0.00055/1 (Korea1K)
          HGVS:
          5.

          rs1491387616 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AA [Show Flanks]
            Chromosome:
            19:58530210 (GRCh38)
            19:59041578 (GRCh37)
            Canonical SPDI:
            NC_000019.10:58530210:A:AAA
            Gene:
            ZBTB45 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AAA=0./0 (ALFA)
            AA=0.0001/2 (GnomAD)
            HGVS:
            6.

            rs1491365505 has merged into rs1319783348 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
              Chromosome:
              19:58543096 (GRCh38)
              19:59054463 (GRCh37)
              Canonical SPDI:
              NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
              Gene:
              TRIM28 (Varview), ZBTB45 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTT=0./0 (ALFA)
              HGVS:
              7.

              rs1491364541 has merged into rs111340524 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC [Show Flanks]
                Chromosome:
                19:58530225 (GRCh38)
                19:59041592 (GRCh37)
                Canonical SPDI:
                NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC
                Gene:
                ZBTB45 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CACACACACACACACAC=0./0 (ALFA)
                CA=0.3804/1905 (1000Genomes)
                -=0.5/20 (GENOME_DK)
                HGVS:
                NC_000019.10:g.58530211AC[7], NC_000019.10:g.58530211AC[8], NC_000019.10:g.58530211AC[9], NC_000019.10:g.58530211AC[10], NC_000019.10:g.58530211AC[11], NC_000019.10:g.58530211AC[12], NC_000019.10:g.58530211AC[14], NC_000019.10:g.58530211AC[15], NC_000019.10:g.58530211AC[16], NC_000019.10:g.58530211AC[17], NC_000019.10:g.58530211AC[18], NC_000019.10:g.58530211AC[19], NC_000019.10:g.58530211AC[20], NC_000019.10:g.58530211AC[21], NC_000019.10:g.58530211AC[22], NC_000019.9:g.59041578AC[7], NC_000019.9:g.59041578AC[8], NC_000019.9:g.59041578AC[9], NC_000019.9:g.59041578AC[10], NC_000019.9:g.59041578AC[11], NC_000019.9:g.59041578AC[12], NC_000019.9:g.59041578AC[14], NC_000019.9:g.59041578AC[15], NC_000019.9:g.59041578AC[16], NC_000019.9:g.59041578AC[17], NC_000019.9:g.59041578AC[18], NC_000019.9:g.59041578AC[19], NC_000019.9:g.59041578AC[20], NC_000019.9:g.59041578AC[21], NC_000019.9:g.59041578AC[22]
                8.

                rs1491264695 has merged into rs1319783348 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                  Chromosome:
                  19:58543096 (GRCh38)
                  19:59054463 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
                  Gene:
                  TRIM28 (Varview), ZBTB45 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491225466 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    19:58536465 (GRCh38)
                    19:59047832 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:58536464:CA:
                    Gene:
                    ZBTB45 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491214757 has merged into rs71293931 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      19:58526538 (GRCh38)
                      19:59037905 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      ZBTB45 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTT=0./0 (ALFA)
                      TTT=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.58526538_58526549del, NC_000019.10:g.58526540_58526549del, NC_000019.10:g.58526541_58526549del, NC_000019.10:g.58526542_58526549del, NC_000019.10:g.58526543_58526549del, NC_000019.10:g.58526544_58526549del, NC_000019.10:g.58526545_58526549del, NC_000019.10:g.58526546_58526549del, NC_000019.10:g.58526547_58526549del, NC_000019.10:g.58526548_58526549del, NC_000019.10:g.58526549del, NC_000019.10:g.58526549dup, NC_000019.10:g.58526547_58526549dup, NC_000019.9:g.59037905_59037916del, NC_000019.9:g.59037907_59037916del, NC_000019.9:g.59037908_59037916del, NC_000019.9:g.59037909_59037916del, NC_000019.9:g.59037910_59037916del, NC_000019.9:g.59037911_59037916del, NC_000019.9:g.59037912_59037916del, NC_000019.9:g.59037913_59037916del, NC_000019.9:g.59037914_59037916del, NC_000019.9:g.59037915_59037916del, NC_000019.9:g.59037916del, NC_000019.9:g.59037916dup, NC_000019.9:g.59037914_59037916dup
                      11.

                      rs1491190491 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        19:58543091 (GRCh38)
                        19:59054459 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:58543091::A
                        Gene:
                        TRIM28 (Varview), ZBTB45 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491186500 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AT,ATTAT,ATTATTAT [Show Flanks]
                          Chromosome:
                          19:58526526 (GRCh38)
                          19:59037894 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:58526526:T:TAT,NC_000019.10:58526526:T:TATTAT,NC_000019.10:58526526:T:TATTATTAT
                          Gene:
                          ZBTB45 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TATTAT=0./0 (ALFA)
                          TA=0.000218/4 (TOMMO)
                          TA=0.000602/71 (GnomAD)
                          HGVS:
                          13.

                          rs1490873497 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:58514983 (GRCh38)
                            19:59026350 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:58514982:G:A
                            Gene:
                            ZBTB45 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490858335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:58516035 (GRCh38)
                              19:59027402 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:58516034:A:G
                              Gene:
                              ZBTB45 (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:
                              15.

                              rs1490830641 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                19:58534626 (GRCh38)
                                19:59045993 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:58534625:G:A,NC_000019.10:58534625:G:C
                                Gene:
                                ZBTB45 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/1 (GnomAD)
                                A=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1490736785 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  GACAGGATTCTCCCCACACACAC>- [Show Flanks]
                                  Chromosome:
                                  19:58539972 (GRCh38)
                                  19:59051339 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:58539971:GACAGGATTCTCCCCACACACAC:
                                  Gene:
                                  ZBTB45 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.00141/2 (Korea1K)
                                  -=0.0019/27 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1490736162 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    19:58521777 (GRCh38)
                                    19:59033144 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:58521776:T:G
                                    Gene:
                                    ZBTB45 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490699255 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      19:58539144 (GRCh38)
                                      19:59050511 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:58539143:C:A,NC_000019.10:58539143:C:T
                                      Gene:
                                      ZBTB45 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000024/3 (GnomAD)
                                      A=0.000289/5 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1490624378 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        19:58521084 (GRCh38)
                                        19:59032451 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:58521083:G:T
                                        Gene:
                                        ZBTB45 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1490587844 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          19:58540267 (GRCh38)
                                          19:59051634 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:58540266:C:A,NC_000019.10:58540266:C:T
                                          Gene:
                                          ZBTB45 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00039/8 (TOMMO)
                                          A=0.00925/27 (KOREAN)
                                          C=0.5/3 (SGDP_PRJ)
                                          HGVS:

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