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1.

rs1491589446 has merged into rs1171649751 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
    Chromosome:
    7:107415836 (GRCh38)
    7:107056281 (GRCh37)
    Canonical SPDI:
    NC_000007.14:107415834:TGTGTGTGT:T,NC_000007.14:107415834:TGTGTGTGT:TGT,NC_000007.14:107415834:TGTGTGTGT:TGTGT,NC_000007.14:107415834:TGTGTGTGT:TGTGTGT,NC_000007.14:107415834:TGTGTGTGT:TGTGTGTGTGT,NC_000007.14:107415834:TGTGTGTGT:TGTGTGTGTGTGT
    Gene:
    COG5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGT=0./0 (ALFA)
    TGTG=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491554998 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      7:107563543 (GRCh38)
      7:107203988 (GRCh37)
      Canonical SPDI:
      NC_000007.14:107563542:AT:
      Gene:
      COG5 (Varview), DUS4L (Varview), DUS4L-BCAP29 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.00218/25 (GnomAD)
      HGVS:
      3.

      rs1491549152 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        7:107542971 (GRCh38)
        7:107183416 (GRCh37)
        Canonical SPDI:
        NC_000007.14:107542970:CA:
        Gene:
        COG5 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491544794 has merged into rs34483652 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAACCAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          7:107558925 (GRCh38)
          7:107199370 (GRCh37)
          Canonical SPDI:
          NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAACCAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107558914:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          COG5 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000007.14:g.107558925_107558935del, NC_000007.14:g.107558927_107558935del, NC_000007.14:g.107558929_107558935del, NC_000007.14:g.107558930_107558935del, NC_000007.14:g.107558931_107558935del, NC_000007.14:g.107558932_107558935del, NC_000007.14:g.107558933_107558935del, NC_000007.14:g.107558934_107558935del, NC_000007.14:g.107558935del, NC_000007.14:g.107558935dup, NC_000007.14:g.107558934_107558935dup, NC_000007.14:g.107558933_107558935dup, NC_000007.14:g.107558932_107558935dup, NC_000007.14:g.107558931_107558935dup, NC_000007.14:g.107558930_107558935dup, NC_000007.14:g.107558929_107558935dup, NC_000007.14:g.107558928_107558935dup, NC_000007.14:g.107558926_107558935dup, NC_000007.14:g.107558925_107558935dup, NC_000007.14:g.107558935_107558936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.107558915_107558935A[23]CAAAACCAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.107558915_107558935A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.107199370_107199380del, NC_000007.13:g.107199372_107199380del, NC_000007.13:g.107199374_107199380del, NC_000007.13:g.107199375_107199380del, NC_000007.13:g.107199376_107199380del, NC_000007.13:g.107199377_107199380del, NC_000007.13:g.107199378_107199380del, NC_000007.13:g.107199379_107199380del, NC_000007.13:g.107199380del, NC_000007.13:g.107199380dup, NC_000007.13:g.107199379_107199380dup, NC_000007.13:g.107199378_107199380dup, NC_000007.13:g.107199377_107199380dup, NC_000007.13:g.107199376_107199380dup, NC_000007.13:g.107199375_107199380dup, NC_000007.13:g.107199374_107199380dup, NC_000007.13:g.107199373_107199380dup, NC_000007.13:g.107199371_107199380dup, NC_000007.13:g.107199370_107199380dup, NC_000007.13:g.107199380_107199381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.107199360_107199380A[23]CAAAACCAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.107199360_107199380A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_028095.2:g.10590_10600del, NG_028095.2:g.10592_10600del, NG_028095.2:g.10594_10600del, NG_028095.2:g.10595_10600del, NG_028095.2:g.10596_10600del, NG_028095.2:g.10597_10600del, NG_028095.2:g.10598_10600del, NG_028095.2:g.10599_10600del, NG_028095.2:g.10600del, NG_028095.2:g.10600dup, NG_028095.2:g.10599_10600dup, NG_028095.2:g.10598_10600dup, NG_028095.2:g.10597_10600dup, NG_028095.2:g.10596_10600dup, NG_028095.2:g.10595_10600dup, NG_028095.2:g.10594_10600dup, NG_028095.2:g.10593_10600dup, NG_028095.2:g.10591_10600dup, NG_028095.2:g.10590_10600dup, NG_028095.2:g.10600_10601insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028095.2:g.10580_10600T[24]GGTTTTGTTTTTTTTTTTTTTTTTTTTTTT[1], NG_028095.2:g.10580_10600T[24]GTTTTTTTTTTTTTTTTTTTTTT[1], NW_017852930.1:g.404580_404590del, NW_017852930.1:g.404582_404590del, NW_017852930.1:g.404584_404590del, NW_017852930.1:g.404585_404590del, NW_017852930.1:g.404586_404590del, NW_017852930.1:g.404587_404590del, NW_017852930.1:g.404588_404590del, NW_017852930.1:g.404589_404590del, NW_017852930.1:g.404590del, NW_017852930.1:g.404590dup, NW_017852930.1:g.404589_404590dup, NW_017852930.1:g.404588_404590dup, NW_017852930.1:g.404587_404590dup, NW_017852930.1:g.404586_404590dup, NW_017852930.1:g.404585_404590dup, NW_017852930.1:g.404584_404590dup, NW_017852930.1:g.404583_404590dup, NW_017852930.1:g.404581_404590dup, NW_017852930.1:g.404580_404590dup, NW_017852930.1:g.404590_404591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_017852930.1:g.404570_404590A[23]CAAAACCAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_017852930.1:g.404570_404590A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1]
          5.

          rs1491538243 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->GTGTGTGTATATATACACGT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491533018 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491527103 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->AAAAAG
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491520713 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  7:107353424 (GRCh38)
                  7:106993869 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:107353423:CA:
                  Gene:
                  COG5 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00565/67 (ALFA)
                  -=0.00061/17 (TOMMO)
                  HGVS:
                  9.

                  rs1491518505 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    7:107251133 (GRCh38)
                    7:106891578 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:107251132:CA:
                    Gene:
                    COG5 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491503606 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->AA,ATATAC [Show Flanks]
                      Chromosome:
                      7:107541543 (GRCh38)
                      7:107181989 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:107541543::AA,NC_000007.14:107541543::ATATAC
                      Gene:
                      COG5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATATAC=0./0 (ALFA)
                      ATATAC=0.000004/1 (TOPMED)
                      ATATAC=0.000008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491469874 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TG>- [Show Flanks]
                        Chromosome:
                        7:107404884 (GRCh38)
                        7:107045329 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:107404883:TG:
                        Gene:
                        COG5 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491468155 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->AATAGCAACATTGTAAGTTAGTAAAAAC
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491448456 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            7:107530629 (GRCh38)
                            7:107171074 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:107530625:ACACA:ACA
                            Gene:
                            COG5 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ACA=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491426292 has merged into rs1355341242 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GT [Show Flanks]
                              Chromosome:
                              7:107541542 (GRCh38)
                              7:107181988 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:107541542:TGT:TGTGT
                              Gene:
                              COG5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGT=0./0 (ALFA)
                              TG=0.000048/6 (GnomAD)
                              TG=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1491423589 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                CC>-
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1491398279 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TG>- [Show Flanks]
                                  Chromosome:
                                  7:107563544 (GRCh38)
                                  7:107203989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:107563543:TG:
                                  Gene:
                                  COG5 (Varview), DUS4L (Varview), DUS4L-BCAP29 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.00008/1 (ALFA)
                                  -=0.00197/26 (TOMMO)
                                  -=0.00283/29 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491391180 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    7:107404884 (GRCh38)
                                    7:107045330 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:107404884:G:GG
                                    Gene:
                                    COG5 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0./0 (ALFA)
                                    G=0.00004/1 (TOMMO)
                                    G=0.00024/7 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491376261 has merged into rs10706886 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      7:107542983 (GRCh38)
                                      7:107183428 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:107542971:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      COG5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.1847/712 (ALSPAC)
                                      HGVS:
                                      NC_000007.14:g.107542983_107542986del, NC_000007.14:g.107542984_107542986del, NC_000007.14:g.107542985_107542986del, NC_000007.14:g.107542986del, NC_000007.14:g.107542986dup, NC_000007.14:g.107542985_107542986dup, NC_000007.14:g.107542979_107542986dup, NC_000007.13:g.107183428_107183431del, NC_000007.13:g.107183429_107183431del, NC_000007.13:g.107183430_107183431del, NC_000007.13:g.107183431del, NC_000007.13:g.107183431dup, NC_000007.13:g.107183430_107183431dup, NC_000007.13:g.107183424_107183431dup, NG_028095.2:g.26540_26543del, NG_028095.2:g.26541_26543del, NG_028095.2:g.26542_26543del, NG_028095.2:g.26543del, NG_028095.2:g.26543dup, NG_028095.2:g.26542_26543dup, NG_028095.2:g.26536_26543dup, NW_017852930.1:g.388638_388641del, NW_017852930.1:g.388639_388641del, NW_017852930.1:g.388640_388641del, NW_017852930.1:g.388641del, NW_017852930.1:g.388641dup, NW_017852930.1:g.388640_388641dup, NW_017852930.1:g.388634_388641dup
                                      19.

                                      rs1491343236 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->AATAG
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1491340314 has merged into rs71134268 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GGGGG>-,G,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
                                          Chromosome:
                                          7:107563554 (GRCh38)
                                          7:107203999 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000007.14:107563544:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
                                          Gene:
                                          COG5 (Varview), DUS4L (Varview), DUS4L-BCAP29 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                          Clinical significance:
                                          benign,likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGGGGGGGGGG=0./0 (ALFA)
                                          -=0.125/5 (GENOME_DK)
                                          HGVS:
                                          NC_000007.14:g.107563554_107563558del, NC_000007.14:g.107563555_107563558del, NC_000007.14:g.107563556_107563558del, NC_000007.14:g.107563557_107563558del, NC_000007.14:g.107563558del, NC_000007.14:g.107563558dup, NC_000007.14:g.107563557_107563558dup, NC_000007.14:g.107563556_107563558dup, NC_000007.14:g.107563555_107563558dup, NC_000007.13:g.107203999_107204003del, NC_000007.13:g.107204000_107204003del, NC_000007.13:g.107204001_107204003del, NC_000007.13:g.107204002_107204003del, NC_000007.13:g.107204003del, NC_000007.13:g.107204003dup, NC_000007.13:g.107204002_107204003dup, NC_000007.13:g.107204001_107204003dup, NC_000007.13:g.107204000_107204003dup, NG_028095.2:g.5966_5970del, NG_028095.2:g.5967_5970del, NG_028095.2:g.5968_5970del, NG_028095.2:g.5969_5970del, NG_028095.2:g.5970del, NG_028095.2:g.5970dup, NG_028095.2:g.5969_5970dup, NG_028095.2:g.5968_5970dup, NG_028095.2:g.5967_5970dup, NW_017852930.1:g.409209_409213del, NW_017852930.1:g.409210_409213del, NW_017852930.1:g.409211_409213del, NW_017852930.1:g.409212_409213del, NW_017852930.1:g.409213del, NW_017852930.1:g.409213dup, NW_017852930.1:g.409212_409213dup, NW_017852930.1:g.409211_409213dup, NW_017852930.1:g.409210_409213dup

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