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1.

rs1491584755 has merged into rs371166684 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:112075079 (GRCh38)
    6:112396282 (GRCh37)
    Canonical SPDI:
    NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT
    Gene:
    TUBE1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.102/52 (NorthernSweden)
    T=0.3305/1655 (1000Genomes)
    HGVS:
    NC_000006.12:g.112075079_112075084del, NC_000006.12:g.112075081_112075084del, NC_000006.12:g.112075082_112075084del, NC_000006.12:g.112075083_112075084del, NC_000006.12:g.112075084del, NC_000006.12:g.112075084dup, NC_000006.12:g.112075083_112075084dup, NC_000006.12:g.112075082_112075084dup, NC_000006.12:g.112075080_112075084dup, NC_000006.12:g.112075070_112075084dup, NC_000006.12:g.112075069_112075084dup, NC_000006.12:g.112075069_112075084T[41]CTTTTTTTTTTTTTTTTTTTT[1], NW_003871062.1:g.72601_72606del, NW_003871062.1:g.72603_72606del, NW_003871062.1:g.72604_72606del, NW_003871062.1:g.72605_72606del, NW_003871062.1:g.72606del, NW_003871062.1:g.72606dup, NW_003871062.1:g.72605_72606dup, NW_003871062.1:g.72604_72606dup, NW_003871062.1:g.72602_72606dup, NW_003871062.1:g.72592_72606dup, NW_003871062.1:g.72591_72606dup, NW_003871062.1:g.72591_72606T[41]CTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.112396282_112396287del, NC_000006.11:g.112396284_112396287del, NC_000006.11:g.112396285_112396287del, NC_000006.11:g.112396286_112396287del, NC_000006.11:g.112396287del, NC_000006.11:g.112396287dup, NC_000006.11:g.112396286_112396287dup, NC_000006.11:g.112396285_112396287dup, NC_000006.11:g.112396283_112396287dup, NC_000006.11:g.112396273_112396287dup, NC_000006.11:g.112396272_112396287dup, NC_000006.11:g.112396272_112396287T[41]CTTTTTTTTTTTTTTTTTTTT[1]
    2.

    rs1491175755 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      6:112075069 (GRCh38)
      6:112396273 (GRCh37)
      Canonical SPDI:
      NC_000006.12:112075069::C
      Gene:
      TUBE1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00017/2 (ALFA)
      C=0.00063/26 (GnomAD)
      HGVS:
      3.

      rs1491073380 has merged into rs201938598 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        6:112075068 (GRCh38)
        6:112396271 (GRCh37)
        Canonical SPDI:
        NC_000006.12:112075066:TCT:T
        Gene:
        TUBE1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.007419/88 (ALFA)
        -=0.000212/3 (TOMMO)
        -=0.010001/1067 (GnomAD)
        -=0.031938/58 (Korea1K)
        HGVS:
        4.

        rs1491069662 has merged into rs60207053 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          6:112079434 (GRCh38)
          6:112400637 (GRCh37)
          Canonical SPDI:
          NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          TUBE1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.375/15 (GENOME_DK)
          HGVS:
          NC_000006.12:g.112079434_112079436del, NC_000006.12:g.112079435_112079436del, NC_000006.12:g.112079436del, NC_000006.12:g.112079436dup, NC_000006.12:g.112079435_112079436dup, NC_000006.12:g.112079432_112079436dup, NC_000006.12:g.112079431_112079436dup, NC_000006.12:g.112079427_112079436dup, NC_000006.12:g.112079426_112079436dup, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76956_76958del, NW_003871062.1:g.76957_76958del, NW_003871062.1:g.76958del, NW_003871062.1:g.76958dup, NW_003871062.1:g.76957_76958dup, NW_003871062.1:g.76954_76958dup, NW_003871062.1:g.76953_76958dup, NW_003871062.1:g.76949_76958dup, NW_003871062.1:g.76948_76958dup, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400637_112400639del, NC_000006.11:g.112400638_112400639del, NC_000006.11:g.112400639del, NC_000006.11:g.112400639dup, NC_000006.11:g.112400638_112400639dup, NC_000006.11:g.112400635_112400639dup, NC_000006.11:g.112400634_112400639dup, NC_000006.11:g.112400630_112400639dup, NC_000006.11:g.112400629_112400639dup, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1490875851 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:112079891 (GRCh38)
            6:112401094 (GRCh37)
            Canonical SPDI:
            NC_000006.12:112079890:T:C
            Gene:
            TUBE1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490586921 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:112086232 (GRCh38)
              6:112407435 (GRCh37)
              Canonical SPDI:
              NC_000006.12:112086231:T:C
              Gene:
              TUBE1 (Varview), FAM229B (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490317483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                6:112086887 (GRCh38)
                6:112408090 (GRCh37)
                Canonical SPDI:
                NC_000006.12:112086886:A:C,NC_000006.12:112086886:A:G
                Gene:
                TUBE1 (Varview), FAM229B (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000021/3 (GnomAD)
                C=0.000038/10 (TOPMED)
                HGVS:
                8.

                rs1490103534 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:112085801 (GRCh38)
                  6:112407004 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:112085800:G:A
                  Gene:
                  TUBE1 (Varview), FAM229B (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490008768 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:112076672 (GRCh38)
                    6:112397875 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:112076671:T:C
                    Gene:
                    TUBE1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489871014 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:112077904 (GRCh38)
                      6:112399107 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:112077903:C:T
                      Gene:
                      TUBE1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1489828108 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:112086244 (GRCh38)
                        6:112407447 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:112086243:A:G
                        Gene:
                        TUBE1 (Varview), FAM229B (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,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:
                        12.

                        rs1489655968 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          6:112076651 (GRCh38)
                          6:112397854 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:112076650:C:A,NC_000006.12:112076650:C:T
                          Gene:
                          TUBE1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489432210 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            6:112085363 (GRCh38)
                            6:112406566 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:112085362:G:A,NC_000006.12:112085362:G:T
                            Gene:
                            TUBE1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489243062 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              6:112076141 (GRCh38)
                              6:112397344 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:112076140:G:T
                              Gene:
                              TUBE1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489200333 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:112072290 (GRCh38)
                                6:112393493 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:112072289:A:G
                                Gene:
                                TUBE1 (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:
                                16.

                                rs1489174089 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:112089436 (GRCh38)
                                  6:112410639 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:112089435:A:G
                                  Gene:
                                  TUBE1 (Varview), FAM229B (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,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:
                                  17.

                                  rs1489149626 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:112073419 (GRCh38)
                                    6:112394622 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:112073418:A:G
                                    Gene:
                                    TUBE1 (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)
                                    G=0.000546/1 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1488977615 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:112080348 (GRCh38)
                                      6:112401551 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:112080347:A:G
                                      Gene:
                                      TUBE1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000546/1 (Korea1K)
                                      G=0.000684/2 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1488965652 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        6:112077442 (GRCh38)
                                        6:112398645 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:112077441:G:A,NC_000006.12:112077441:G:T
                                        Gene:
                                        TUBE1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488903396 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          6:112085225 (GRCh38)
                                          6:112406428 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:112085224:TTTT:TTT
                                          Gene:
                                          TUBE1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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