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Items: 1 to 20 of 4410

1.

rs1491532445 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:26062270 (GRCh38)
    1:26388761 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26062269:CA:
    Gene:
    TRIM63 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491440852 has merged into rs61219158 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      1:26062280 (GRCh38)
      1:26388771 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:26062270:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      TRIM63 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      -=0.06072/234 (ALSPAC)
      HGVS:
      NC_000001.11:g.26062280_26062285del, NC_000001.11:g.26062281_26062285del, NC_000001.11:g.26062283_26062285del, NC_000001.11:g.26062284_26062285del, NC_000001.11:g.26062285del, NC_000001.11:g.26062285dup, NC_000001.11:g.26062284_26062285dup, NC_000001.11:g.26062283_26062285dup, NC_000001.11:g.26062282_26062285dup, NC_000001.11:g.26062274_26062285dup, NC_000001.10:g.26388771_26388776del, NC_000001.10:g.26388772_26388776del, NC_000001.10:g.26388774_26388776del, NC_000001.10:g.26388775_26388776del, NC_000001.10:g.26388776del, NC_000001.10:g.26388776dup, NC_000001.10:g.26388775_26388776dup, NC_000001.10:g.26388774_26388776dup, NC_000001.10:g.26388773_26388776dup, NC_000001.10:g.26388765_26388776dup, NG_033268.1:g.10359_10364del, NG_033268.1:g.10360_10364del, NG_033268.1:g.10362_10364del, NG_033268.1:g.10363_10364del, NG_033268.1:g.10364del, NG_033268.1:g.10364dup, NG_033268.1:g.10363_10364dup, NG_033268.1:g.10362_10364dup, NG_033268.1:g.10361_10364dup, NG_033268.1:g.10353_10364dup
      3.

      rs1491237868 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:26069308 (GRCh38)
        1:26395799 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26069307:CA:
        Gene:
        TRIM63 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000759/9 (ALFA)
        -=0.000111/12 (GnomAD)
        HGVS:
        4.

        rs1491229117 has merged into rs71004562 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTTTGTTTGTTTGTTT>-,GTTT,GTTTGTTT,GTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT [Show Flanks]
          Chromosome:
          1:26063072 (GRCh38)
          1:26389563 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000001.11:26063056:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
          Gene:
          TRIM63 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTGTTTGTTTGTTTGTTT=0./0 (ALFA)
          TTTG=0.45/18 (GENOME_DK)
          HGVS:
          NC_000001.11:g.26063060GTTT[3], NC_000001.11:g.26063060GTTT[4], NC_000001.11:g.26063060GTTT[5], NC_000001.11:g.26063060GTTT[6], NC_000001.11:g.26063060GTTT[8], NC_000001.11:g.26063060GTTT[9], NC_000001.11:g.26063060GTTT[10], NC_000001.11:g.26063060GTTT[11], NC_000001.11:g.26063060GTTT[12], NC_000001.10:g.26389551GTTT[3], NC_000001.10:g.26389551GTTT[4], NC_000001.10:g.26389551GTTT[5], NC_000001.10:g.26389551GTTT[6], NC_000001.10:g.26389551GTTT[8], NC_000001.10:g.26389551GTTT[9], NC_000001.10:g.26389551GTTT[10], NC_000001.10:g.26389551GTTT[11], NC_000001.10:g.26389551GTTT[12], NG_033268.1:g.9551CAAA[3], NG_033268.1:g.9551CAAA[4], NG_033268.1:g.9551CAAA[5], NG_033268.1:g.9551CAAA[6], NG_033268.1:g.9551CAAA[8], NG_033268.1:g.9551CAAA[9], NG_033268.1:g.9551CAAA[10], NG_033268.1:g.9551CAAA[11], NG_033268.1:g.9551CAAA[12]
          5.

          rs1491223968 has merged into rs986591996 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:26059032 (GRCh38)
            1:26385523 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26059023:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            TRIM63 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.26059032_26059042del, NC_000001.11:g.26059033_26059042del, NC_000001.11:g.26059036_26059042del, NC_000001.11:g.26059038_26059042del, NC_000001.11:g.26059039_26059042del, NC_000001.11:g.26059040_26059042del, NC_000001.11:g.26059041_26059042del, NC_000001.11:g.26059042del, NC_000001.11:g.26059042dup, NC_000001.11:g.26059041_26059042dup, NC_000001.11:g.26059040_26059042dup, NC_000001.11:g.26059039_26059042dup, NC_000001.11:g.26059038_26059042dup, NC_000001.11:g.26059034_26059042dup, NC_000001.10:g.26385523_26385533del, NC_000001.10:g.26385524_26385533del, NC_000001.10:g.26385527_26385533del, NC_000001.10:g.26385529_26385533del, NC_000001.10:g.26385530_26385533del, NC_000001.10:g.26385531_26385533del, NC_000001.10:g.26385532_26385533del, NC_000001.10:g.26385533del, NC_000001.10:g.26385533dup, NC_000001.10:g.26385532_26385533dup, NC_000001.10:g.26385531_26385533dup, NC_000001.10:g.26385530_26385533dup, NC_000001.10:g.26385529_26385533dup, NC_000001.10:g.26385525_26385533dup, NG_033268.1:g.13601_13611del, NG_033268.1:g.13602_13611del, NG_033268.1:g.13605_13611del, NG_033268.1:g.13607_13611del, NG_033268.1:g.13608_13611del, NG_033268.1:g.13609_13611del, NG_033268.1:g.13610_13611del, NG_033268.1:g.13611del, NG_033268.1:g.13611dup, NG_033268.1:g.13610_13611dup, NG_033268.1:g.13609_13611dup, NG_033268.1:g.13608_13611dup, NG_033268.1:g.13607_13611dup, NG_033268.1:g.13603_13611dup
            6.

            rs1491205141 has merged into rs200789607 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAA>-,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:26069312 (GRCh38)
              1:26395803 (GRCh37)
              Canonical SPDI:
              NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26069308:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
              Gene:
              TRIM63 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAA=0./0 (ALFA)
              -=0.000034/9 (TOPMED)
              HGVS:
              7.

              rs1491082349 has merged into rs71004563 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
                Chromosome:
                1:26069514 (GRCh38)
                1:26396005 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:26069500:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                TRIM63 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0./0 (ALFA)
                TT=0.0917/340 (TWINSUK)
                TT=0.1575/607 (ALSPAC)
                HGVS:
                8.

                rs1490862677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:26055213 (GRCh38)
                  1:26381704 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26055212:T:C
                  Gene:
                  TRIM63 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490823225 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CAGATGA>- [Show Flanks]
                    Chromosome:
                    1:26058252 (GRCh38)
                    1:26384743 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:26058248:TGACAGATGA:TGA
                    Gene:
                    TRIM63 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TGA=0.000071/1 (ALFA)
                    -=0.000014/2 (GnomAD)
                    -=0.000034/9 (TOPMED)
                    HGVS:
                    10.

                    rs1490684884 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:26055767 (GRCh38)
                      1:26382258 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26055766:C:G
                      Gene:
                      TRIM63 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490522560 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        1:26054692 (GRCh38)
                        1:26381183 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26054691:C:G,NC_000001.11:26054691:C:T
                        Gene:
                        TRIM63 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490461567 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:26061805 (GRCh38)
                          1:26388296 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26061804:G:C
                          Gene:
                          TRIM63 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490156065 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            1:26052558 (GRCh38)
                            1:26379049 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:26052557:T:
                            Gene:
                            TRIM63 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490028839 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:26053473 (GRCh38)
                              1:26379964 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26053472:T:C
                              Gene:
                              TRIM63 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489979599 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:26052250 (GRCh38)
                                1:26378741 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26052249:T:C
                                Gene:
                                TRIM63 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000026/7 (TOPMED)
                                HGVS:
                                16.

                                rs1489735240 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:26052946 (GRCh38)
                                  1:26379437 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26052945:A:G
                                  Gene:
                                  TRIM63 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489629624 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:26067382 (GRCh38)
                                    1:26393873 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26067381:G:A
                                    Gene:
                                    TRIM63 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489543837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:26068651 (GRCh38)
                                      1:26395142 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26068650:A:G
                                      Gene:
                                      TRIM63 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000084/1 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488917124 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:26052520 (GRCh38)
                                        1:26379011 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26052519:A:G
                                        Gene:
                                        TRIM63 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.0002/1 (ALFA)
                                        G=0.0002/1 (Estonian)
                                        A=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1488852824 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:26066939 (GRCh38)
                                          1:26393430 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26066938:A:G
                                          Gene:
                                          TRIM63 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:

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