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1.

rs1491580759 has merged into rs58009024 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
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how Flanks]
    Chromosome:
    7:64989448 (GRCh38)
    7:64449826 (GRCh37)
    Canonical SPDI:
    NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:64989443:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
    Gene:
    ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATA=0./0 (ALFA)
    HGVS:
    NC_000007.14:g.64989444TA[2], NC_000007.14:g.64989444TA[5], NC_000007.14:g.64989444TA[6], NC_000007.14:g.64989444TA[7], NC_000007.14:g.64989444TA[8], NC_000007.14:g.64989444TA[9], NC_000007.14:g.64989444TA[10], NC_000007.14:g.64989444TA[11], NC_000007.14:g.64989444TA[12], NC_000007.14:g.64989444TA[13], NC_000007.14:g.64989444TA[14], NC_000007.14:g.64989444TA[15], NC_000007.14:g.64989444TA[16], NC_000007.14:g.64989444TA[17], NC_000007.14:g.64989444TA[18], NC_000007.14:g.64989444TA[19], NC_000007.14:g.64989444TA[20], NC_000007.14:g.64989444TA[21], NC_000007.14:g.64989444TA[22], NC_000007.14:g.64989444TA[23], NC_000007.14:g.64989444TA[24], NC_000007.14:g.64989444TA[25], NC_000007.14:g.64989444TA[26], NC_000007.14:g.64989444TA[27], NC_000007.14:g.64989444TA[29], NC_000007.14:g.64989444TA[30], NC_000007.14:g.64989444TA[31], NC_000007.14:g.64989444TA[32], NC_000007.14:g.64989444TA[33], NC_000007.14:g.64989444TA[34], NC_000007.14:g.64989444TA[35], NC_000007.14:g.64989444TA[36], NC_000007.13:g.64449822TA[2], NC_000007.13:g.64449822TA[5], NC_000007.13:g.64449822TA[6], NC_000007.13:g.64449822TA[7], NC_000007.13:g.64449822TA[8], NC_000007.13:g.64449822TA[9], NC_000007.13:g.64449822TA[10], NC_000007.13:g.64449822TA[11], NC_000007.13:g.64449822TA[12], NC_000007.13:g.64449822TA[13], NC_000007.13:g.64449822TA[14], NC_000007.13:g.64449822TA[15], NC_000007.13:g.64449822TA[16], NC_000007.13:g.64449822TA[17], NC_000007.13:g.64449822TA[18], NC_000007.13:g.64449822TA[19], NC_000007.13:g.64449822TA[20], NC_000007.13:g.64449822TA[21], NC_000007.13:g.64449822TA[22], NC_000007.13:g.64449822TA[23], NC_000007.13:g.64449822TA[24], NC_000007.13:g.64449822TA[25], NC_000007.13:g.64449822TA[26], NC_000007.13:g.64449822TA[27], NC_000007.13:g.64449822TA[29], NC_000007.13:g.64449822TA[30], NC_000007.13:g.64449822TA[31], NC_000007.13:g.64449822TA[32], NC_000007.13:g.64449822TA[33], NC_000007.13:g.64449822TA[34], NC_000007.13:g.64449822TA[35], NC_000007.13:g.64449822TA[36]

    2.

    rs1491401158 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CATATATATATA [Show Flanks]
      Chromosome:
      7:64989444 (GRCh38)
      7:64449823 (GRCh37)
      Canonical SPDI:
      NC_000007.14:64989444:ATATATATATA:ATATATATATACATATATATATA
      Gene:
      ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATATACATATATATATA=0./0 (ALFA)
      ATATATATATAC=0.01291/26 (GnomAD)
      HGVS:

      3.

      rs1491397184 has merged into rs146554486 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>-,CACA,CACACA [Show Flanks]
        Chromosome:
        7:64989190 (GRCh38)
        7:64449568 (GRCh37)
        Canonical SPDI:
        NC_000007.14:64989176:ACACACACACACACA:ACACACACACACA,NC_000007.14:64989176:ACACACACACACACA:ACACACACACACACACA,NC_000007.14:64989176:ACACACACACACACA:ACACACACACACACACACA
        Gene:
        ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACA=0.000129/2 (ALFA)
        ACAC=0.000008/2 (TOPMED)
        AC=0.05/2 (GENOME_DK)
        AC=0.055/33 (NorthernSweden)
        AC=0.059118/59 (GoNL)
        AC=0.125/229 (Korea1K)
        HGVS:

        4.

        rs1491257513 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          7:64974988 (GRCh38)
          7:64435367 (GRCh37)
          Canonical SPDI:
          NC_000007.14:64974988:T:TT
          Gene:
          ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000008/1 (GnomAD)
          HGVS:

          5.

          rs1491146064 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            7:64974990 (GRCh38)
            7:64435368 (GRCh37)
            Canonical SPDI:
            NC_000007.14:64974987:ATAT:AT
            Gene:
            ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            -=0.000008/1 (GnomAD)
            HGVS:

            6.

            rs1491034576 has merged into rs148723682 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
              Chromosome:
              7:64989156 (GRCh38)
              7:64449534 (GRCh37)
              Canonical SPDI:
              NC_000007.14:64989146:ACACACACACACACACA:ACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:64989146:ACACACACACACACACA:ACACACACACACACACACACACACA
              Gene:
              ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACACACACACA=0./0 (ALFA)
              -=0.1128/565 (1000Genomes)
              HGVS:

              7.

              rs1491010466 has merged into rs71061343 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAA [Show Flanks]
                Chromosome:
                7:64976455 (GRCh38)
                7:64436833 (GRCh37)
                Canonical SPDI:
                NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:64976440:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.3996/2001 (1000Genomes)
                HGVS:
                NC_000007.14:g.64976455_64976456del, NC_000007.14:g.64976456del, NC_000007.14:g.64976456dup, NC_000007.14:g.64976455_64976456dup, NC_000007.14:g.64976454_64976456dup, NC_000007.14:g.64976448_64976456dup, NC_000007.13:g.64436833_64436834del, NC_000007.13:g.64436834del, NC_000007.13:g.64436834dup, NC_000007.13:g.64436833_64436834dup, NC_000007.13:g.64436832_64436834dup, NC_000007.13:g.64436826_64436834dup, NM_015852.4:c.*1677_*1678del, NM_015852.4:c.*1678del, NM_015852.4:c.*1678dup, NM_015852.4:c.*1677_*1678dup, NM_015852.4:c.*1676_*1678dup, NM_015852.4:c.*1670_*1678dup, NM_015852.3:c.*1677_*1678del, NM_015852.3:c.*1678del, NM_015852.3:c.*1678dup, NM_015852.3:c.*1677_*1678dup, NM_015852.3:c.*1676_*1678dup, NM_015852.3:c.*1670_*1678dup, NM_001348050.2:c.*1677_*1678del, NM_001348050.2:c.*1678del, NM_001348050.2:c.*1678dup, NM_001348050.2:c.*1677_*1678dup, NM_001348050.2:c.*1676_*1678dup, NM_001348050.2:c.*1670_*1678dup, NM_001348050.1:c.*1677_*1678del, NM_001348050.1:c.*1678del, NM_001348050.1:c.*1678dup, NM_001348050.1:c.*1677_*1678dup, NM_001348050.1:c.*1676_*1678dup, NM_001348050.1:c.*1670_*1678dup

                8.

                rs1491003285 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:64979303 (GRCh38)
                  7:64439681 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:64979302:A:G
                  Gene:
                  ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1490948785 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    T>C
                    Chromosome:
                    no mapping
                    Canonical SPDI:

                    10.

                    rs1490920165 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      7:64981341 (GRCh38)
                      7:64441719 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:64981340:C:A,NC_000007.14:64981340:C:T
                      Gene:
                      ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490894787 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:64982614 (GRCh38)
                        7:64442992 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:64982613:C:T
                        Gene:
                        ZNF117 (Varview), ERV3-1-ZNF117 (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.

                        rs1490680199 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->GAA [Show Flanks]
                          Chromosome:
                          7:64989772 (GRCh38)
                          7:64450151 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:64989772:AA:AAGAA
                          Gene:
                          ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AAGAA=0.00008/1 (ALFA)
                          HGVS:

                          13.

                          rs1490518431 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:64990247 (GRCh38)
                            7:64450625 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:64990246:C:T
                            Gene:
                            ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,intron_variant,500B_downstream_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490133878 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              7:64988289 (GRCh38)
                              7:64448667 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:64988288:GG:G
                              Gene:
                              ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GG=0.000066/1 (ALFA)
                              -=0.000021/3 (GnomAD)
                              -=0.000223/1 (Estonian)
                              HGVS:

                              15.

                              rs1489615921 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:64978069 (GRCh38)
                                7:64438447 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:64978068:T:C
                                Gene:
                                ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1489551908 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:64976533 (GRCh38)
                                  7:64436911 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:64976532:T:C
                                  Gene:
                                  ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489521714 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    7:64980543 (GRCh38)
                                    7:64440921 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:64980542:T:A
                                    Gene:
                                    ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0./0 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489365305 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:64991692 (GRCh38)
                                      7:64452070 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:64991691:G:A
                                      Gene:
                                      ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489279190 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        7:64991045 (GRCh38)
                                        7:64451423 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:64991044:G:A,NC_000007.14:64991044:G:C
                                        Gene:
                                        ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1489271257 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:64990645 (GRCh38)
                                          7:64451023 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:64990644:C:T
                                          Gene:
                                          ERV3-1 (Varview), ZNF117 (Varview), ERV3-1-ZNF117 (Varview)
                                          Functional Consequence:
                                          intron_variant,3_prime_UTR_variant,5_prime_UTR_variant,genic_downstream_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:

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