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Items: 1 to 20 of 17930

1.

rs1491575349 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    14:92032182 (GRCh38)
    14:92498526 (GRCh37)
    Canonical SPDI:
    NC_000014.9:92032178:TCTCT:TCT
    Gene:
    TRIP11 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCT=0./0 (ALFA)
    -=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1491558573 has merged into rs200430285 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
      Chromosome:
      14:92032843 (GRCh38)
      14:92499187 (GRCh37)
      Canonical SPDI:
      NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:92032832:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
      Gene:
      TRIP11 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      -=0.275/11 (GENOME_DK)
      HGVS:

      3.

      rs1491536791 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        14:92041569 (GRCh38)
        14:92507913 (GRCh37)
        Canonical SPDI:
        NC_000014.9:92041568:TA:
        Gene:
        TRIP11 (Varview), LOC124903363 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.00017/3 (GnomAD)
        HGVS:

        4.

        rs1491509677 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CCT [Show Flanks]
          Chromosome:
          14:92014955 (GRCh38)
          14:92481300 (GRCh37)
          Canonical SPDI:
          NC_000014.9:92014955::CCT
          Gene:
          TRIP11 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          CCT=0.00007/1 (ALFA)
          HGVS:

          5.

          rs1491507195 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            14:91979257 (GRCh38)
            14:92445601 (GRCh37)
            Canonical SPDI:
            NC_000014.9:91979256:CA:
            Gene:
            TRIP11 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:

            6.

            rs1491437501 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>- [Show Flanks]
              Chromosome:
              14:92014956 (GRCh38)
              14:92481300 (GRCh37)
              Canonical SPDI:
              NC_000014.9:92014954:GGG:G
              Gene:
              TRIP11 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              -=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1491430279 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                14:91992079 (GRCh38)
                14:92458423 (GRCh37)
                Canonical SPDI:
                NC_000014.9:91992078:CA:
                Gene:
                TRIP11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00008/1 (ALFA)
                HGVS:

                8.

                rs1491424487 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  14:92018960 (GRCh38)
                  14:92485304 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:92018959:CA:
                  Gene:
                  TRIP11 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  HGVS:

                  9.

                  rs1491409869 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    14:92030203 (GRCh38)
                    14:92496547 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:92030202:CA:
                    Gene:
                    TRIP11 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.00632/75 (ALFA)
                    -=0.00316/89 (TOMMO)
                    HGVS:

                    10.

                    rs1491369297 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      14:92021388 (GRCh38)
                      14:92487732 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:92021387:CA:
                      Gene:
                      TRIP11 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00008/1 (ALFA)
                      HGVS:

                      11.

                      rs1491289216 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        14:92032832 (GRCh38)
                        14:92499176 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:92032831:CA:
                        Gene:
                        TRIP11 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000016/2 (GnomAD)
                        HGVS:

                        12.

                        rs1491271746 has merged into rs71123312 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          14:92041581 (GRCh38)
                          14:92507925 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          TRIP11 (Varview), LOC124903363 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAA=0./0 (ALFA)
                          HGVS:
                          NC_000014.9:g.92041581_92041593del, NC_000014.9:g.92041583_92041593del, NC_000014.9:g.92041584_92041593del, NC_000014.9:g.92041585_92041593del, NC_000014.9:g.92041586_92041593del, NC_000014.9:g.92041587_92041593del, NC_000014.9:g.92041588_92041593del, NC_000014.9:g.92041589_92041593del, NC_000014.9:g.92041590_92041593del, NC_000014.9:g.92041591_92041593del, NC_000014.9:g.92041592_92041593del, NC_000014.9:g.92041593del, NC_000014.9:g.92041593dup, NC_000014.9:g.92041592_92041593dup, NC_000014.9:g.92041591_92041593dup, NC_000014.9:g.92041590_92041593dup, NC_000014.9:g.92041589_92041593dup, NC_000014.9:g.92041588_92041593dup, NC_000014.9:g.92041587_92041593dup, NC_000014.9:g.92041586_92041593dup, NC_000014.9:g.92041585_92041593dup, NC_000014.9:g.92041584_92041593dup, NC_000014.9:g.92041583_92041593dup, NC_000014.9:g.92041582_92041593dup, NC_000014.9:g.92041581_92041593dup, NC_000014.9:g.92041580_92041593dup, NC_000014.9:g.92041579_92041593dup, NC_000014.9:g.92041578_92041593dup, NC_000014.9:g.92041577_92041593dup, NC_000014.9:g.92041576_92041593dup, NC_000014.9:g.92041575_92041593dup, NC_000014.9:g.92041574_92041593dup, NC_000014.9:g.92041573_92041593dup, NC_000014.9:g.92041572_92041593dup, NC_000014.9:g.92041571_92041593dup, NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92507925_92507937del, NC_000014.8:g.92507927_92507937del, NC_000014.8:g.92507928_92507937del, NC_000014.8:g.92507929_92507937del, NC_000014.8:g.92507930_92507937del, NC_000014.8:g.92507931_92507937del, NC_000014.8:g.92507932_92507937del, NC_000014.8:g.92507933_92507937del, NC_000014.8:g.92507934_92507937del, NC_000014.8:g.92507935_92507937del, NC_000014.8:g.92507936_92507937del, NC_000014.8:g.92507937del, NC_000014.8:g.92507937dup, NC_000014.8:g.92507936_92507937dup, NC_000014.8:g.92507935_92507937dup, NC_000014.8:g.92507934_92507937dup, NC_000014.8:g.92507933_92507937dup, NC_000014.8:g.92507932_92507937dup, NC_000014.8:g.92507931_92507937dup, NC_000014.8:g.92507930_92507937dup, NC_000014.8:g.92507929_92507937dup, NC_000014.8:g.92507928_92507937dup, NC_000014.8:g.92507927_92507937dup, NC_000014.8:g.92507926_92507937dup, NC_000014.8:g.92507925_92507937dup, NC_000014.8:g.92507924_92507937dup, NC_000014.8:g.92507923_92507937dup, NC_000014.8:g.92507922_92507937dup, NC_000014.8:g.92507921_92507937dup, NC_000014.8:g.92507920_92507937dup, NC_000014.8:g.92507919_92507937dup, NC_000014.8:g.92507918_92507937dup, NC_000014.8:g.92507917_92507937dup, NC_000014.8:g.92507916_92507937dup, NC_000014.8:g.92507915_92507937dup, NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008198.2:g.70040_70052del, NG_008198.2:g.70042_70052del, NG_008198.2:g.70043_70052del, NG_008198.2:g.70044_70052del, NG_008198.2:g.70045_70052del, NG_008198.2:g.70046_70052del, NG_008198.2:g.70047_70052del, NG_008198.2:g.70048_70052del, NG_008198.2:g.70049_70052del, NG_008198.2:g.70050_70052del, NG_008198.2:g.70051_70052del, NG_008198.2:g.70052del, NG_008198.2:g.70052dup, NG_008198.2:g.70051_70052dup, NG_008198.2:g.70050_70052dup, NG_008198.2:g.70049_70052dup, NG_008198.2:g.70048_70052dup, NG_008198.2:g.70047_70052dup, NG_008198.2:g.70046_70052dup, NG_008198.2:g.70045_70052dup, NG_008198.2:g.70044_70052dup, NG_008198.2:g.70043_70052dup, NG_008198.2:g.70042_70052dup, NG_008198.2:g.70041_70052dup, NG_008198.2:g.70040_70052dup, NG_008198.2:g.70039_70052dup, NG_008198.2:g.70038_70052dup, NG_008198.2:g.70037_70052dup, NG_008198.2:g.70036_70052dup, NG_008198.2:g.70035_70052dup, NG_008198.2:g.70034_70052dup, NG_008198.2:g.70033_70052dup, NG_008198.2:g.70032_70052dup, NG_008198.2:g.70031_70052dup, NG_008198.2:g.70030_70052dup, NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.3478_3490del, NG_016970.1:g.3480_3490del, NG_016970.1:g.3481_3490del, NG_016970.1:g.3482_3490del, NG_016970.1:g.3483_3490del, NG_016970.1:g.3484_3490del, NG_016970.1:g.3485_3490del, NG_016970.1:g.3486_3490del, NG_016970.1:g.3487_3490del, NG_016970.1:g.3488_3490del, NG_016970.1:g.3489_3490del, NG_016970.1:g.3490del, NG_016970.1:g.3490dup, NG_016970.1:g.3489_3490dup, NG_016970.1:g.3488_3490dup, NG_016970.1:g.3487_3490dup, NG_016970.1:g.3486_3490dup, NG_016970.1:g.3485_3490dup, NG_016970.1:g.3484_3490dup, NG_016970.1:g.3483_3490dup, NG_016970.1:g.3482_3490dup, NG_016970.1:g.3481_3490dup, NG_016970.1:g.3480_3490dup, NG_016970.1:g.3479_3490dup, NG_016970.1:g.3478_3490dup, NG_016970.1:g.3477_3490dup, NG_016970.1:g.3476_3490dup, NG_016970.1:g.3475_3490dup, NG_016970.1:g.3474_3490dup, NG_016970.1:g.3473_3490dup, NG_016970.1:g.3472_3490dup, NG_016970.1:g.3471_3490dup, NG_016970.1:g.3470_3490dup, NG_016970.1:g.3469_3490dup, NG_016970.1:g.3468_3490dup, NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTTT

                          13.

                          rs1491259319 has merged into rs749287959 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAATAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            14:91988643 (GRCh38)
                            14:92454987 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAATAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91988633:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            TRIP11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000014.9:g.91988643_91988653del, NC_000014.9:g.91988646_91988653del, NC_000014.9:g.91988647_91988653del, NC_000014.9:g.91988648_91988653del, NC_000014.9:g.91988649_91988653del, NC_000014.9:g.91988650_91988653del, NC_000014.9:g.91988651_91988653del, NC_000014.9:g.91988652_91988653del, NC_000014.9:g.91988653del, NC_000014.9:g.91988653dup, NC_000014.9:g.91988652_91988653dup, NC_000014.9:g.91988651_91988653dup, NC_000014.9:g.91988649_91988653dup, NC_000014.9:g.91988648_91988653dup, NC_000014.9:g.91988645_91988653dup, NC_000014.9:g.91988644_91988653dup, NC_000014.9:g.91988643_91988653dup, NC_000014.9:g.91988653_91988654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.91988653_91988654insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.91988653_91988654insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.91988653_91988654insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.91988653_91988654insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.91988634_91988653A[33]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.91988634_91988653A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.91988634_91988653A[27]CAAAATAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.91988634_91988653A[26]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.9:g.91988634_91988653A[22]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.92454987_92454997del, NC_000014.8:g.92454990_92454997del, NC_000014.8:g.92454991_92454997del, NC_000014.8:g.92454992_92454997del, NC_000014.8:g.92454993_92454997del, NC_000014.8:g.92454994_92454997del, NC_000014.8:g.92454995_92454997del, NC_000014.8:g.92454996_92454997del, NC_000014.8:g.92454997del, NC_000014.8:g.92454997dup, NC_000014.8:g.92454996_92454997dup, NC_000014.8:g.92454995_92454997dup, NC_000014.8:g.92454993_92454997dup, NC_000014.8:g.92454992_92454997dup, NC_000014.8:g.92454989_92454997dup, NC_000014.8:g.92454988_92454997dup, NC_000014.8:g.92454987_92454997dup, NC_000014.8:g.92454997_92454998insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92454997_92454998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92454997_92454998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92454997_92454998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92454997_92454998insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.92454978_92454997A[33]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.92454978_92454997A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.92454978_92454997A[27]CAAAATAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.92454978_92454997A[26]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.92454978_92454997A[22]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016970.1:g.56416_56426del, NG_016970.1:g.56419_56426del, NG_016970.1:g.56420_56426del, NG_016970.1:g.56421_56426del, NG_016970.1:g.56422_56426del, NG_016970.1:g.56423_56426del, NG_016970.1:g.56424_56426del, NG_016970.1:g.56425_56426del, NG_016970.1:g.56426del, NG_016970.1:g.56426dup, NG_016970.1:g.56425_56426dup, NG_016970.1:g.56424_56426dup, NG_016970.1:g.56422_56426dup, NG_016970.1:g.56421_56426dup, NG_016970.1:g.56418_56426dup, NG_016970.1:g.56417_56426dup, NG_016970.1:g.56416_56426dup, NG_016970.1:g.56426_56427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.56426_56427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.56426_56427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.56426_56427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.56426_56427insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016970.1:g.56407_56426T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016970.1:g.56407_56426T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016970.1:g.56407_56426T[26]GTTTTTATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016970.1:g.56407_56426T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016970.1:g.56407_56426T[50]ATTTTTTTTTTTTTTTTTTTTTT[1]

                            14.

                            rs1491201973 has merged into rs564098716 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              14:91981024 (GRCh38)
                              14:92447368 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:91981012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              TRIP11 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              NC_000014.9:g.91981024_91981036del, NC_000014.9:g.91981025_91981036del, NC_000014.9:g.91981026_91981036del, NC_000014.9:g.91981027_91981036del, NC_000014.9:g.91981028_91981036del, NC_000014.9:g.91981029_91981036del, NC_000014.9:g.91981030_91981036del, NC_000014.9:g.91981031_91981036del, NC_000014.9:g.91981032_91981036del, NC_000014.9:g.91981033_91981036del, NC_000014.9:g.91981034_91981036del, NC_000014.9:g.91981035_91981036del, NC_000014.9:g.91981036del, NC_000014.9:g.91981036dup, NC_000014.9:g.91981035_91981036dup, NC_000014.9:g.91981034_91981036dup, NC_000014.9:g.91981033_91981036dup, NC_000014.9:g.91981032_91981036dup, NC_000014.9:g.91981031_91981036dup, NC_000014.9:g.91981030_91981036dup, NC_000014.9:g.91981029_91981036dup, NC_000014.9:g.91981028_91981036dup, NC_000014.9:g.91981027_91981036dup, NC_000014.9:g.91981026_91981036dup, NC_000014.9:g.91981025_91981036dup, NC_000014.9:g.91981024_91981036dup, NC_000014.9:g.91981021_91981036dup, NC_000014.8:g.92447368_92447380del, NC_000014.8:g.92447369_92447380del, NC_000014.8:g.92447370_92447380del, NC_000014.8:g.92447371_92447380del, NC_000014.8:g.92447372_92447380del, NC_000014.8:g.92447373_92447380del, NC_000014.8:g.92447374_92447380del, NC_000014.8:g.92447375_92447380del, NC_000014.8:g.92447376_92447380del, NC_000014.8:g.92447377_92447380del, NC_000014.8:g.92447378_92447380del, NC_000014.8:g.92447379_92447380del, NC_000014.8:g.92447380del, NC_000014.8:g.92447380dup, NC_000014.8:g.92447379_92447380dup, NC_000014.8:g.92447378_92447380dup, NC_000014.8:g.92447377_92447380dup, NC_000014.8:g.92447376_92447380dup, NC_000014.8:g.92447375_92447380dup, NC_000014.8:g.92447374_92447380dup, NC_000014.8:g.92447373_92447380dup, NC_000014.8:g.92447372_92447380dup, NC_000014.8:g.92447371_92447380dup, NC_000014.8:g.92447370_92447380dup, NC_000014.8:g.92447369_92447380dup, NC_000014.8:g.92447368_92447380dup, NC_000014.8:g.92447365_92447380dup, NG_016970.1:g.64035_64047del, NG_016970.1:g.64036_64047del, NG_016970.1:g.64037_64047del, NG_016970.1:g.64038_64047del, NG_016970.1:g.64039_64047del, NG_016970.1:g.64040_64047del, NG_016970.1:g.64041_64047del, NG_016970.1:g.64042_64047del, NG_016970.1:g.64043_64047del, NG_016970.1:g.64044_64047del, NG_016970.1:g.64045_64047del, NG_016970.1:g.64046_64047del, NG_016970.1:g.64047del, NG_016970.1:g.64047dup, NG_016970.1:g.64046_64047dup, NG_016970.1:g.64045_64047dup, NG_016970.1:g.64044_64047dup, NG_016970.1:g.64043_64047dup, NG_016970.1:g.64042_64047dup, NG_016970.1:g.64041_64047dup, NG_016970.1:g.64040_64047dup, NG_016970.1:g.64039_64047dup, NG_016970.1:g.64038_64047dup, NG_016970.1:g.64037_64047dup, NG_016970.1:g.64036_64047dup, NG_016970.1:g.64035_64047dup, NG_016970.1:g.64032_64047dup

                              15.

                              rs1491154074 has merged into rs35038594 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                14:92021401 (GRCh38)
                                14:92487745 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92021388:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                TRIP11 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAA=0./0 (ALFA)
                                AA=0.000004/1 (TOPMED)
                                -=0.35/14 (GENOME_DK)
                                HGVS:
                                NC_000014.9:g.92021401_92021405del, NC_000014.9:g.92021402_92021405del, NC_000014.9:g.92021403_92021405del, NC_000014.9:g.92021404_92021405del, NC_000014.9:g.92021405del, NC_000014.9:g.92021405dup, NC_000014.9:g.92021404_92021405dup, NC_000014.9:g.92021403_92021405dup, NC_000014.9:g.92021402_92021405dup, NC_000014.9:g.92021399_92021405dup, NC_000014.8:g.92487745_92487749del, NC_000014.8:g.92487746_92487749del, NC_000014.8:g.92487747_92487749del, NC_000014.8:g.92487748_92487749del, NC_000014.8:g.92487749del, NC_000014.8:g.92487749dup, NC_000014.8:g.92487748_92487749dup, NC_000014.8:g.92487747_92487749dup, NC_000014.8:g.92487746_92487749dup, NC_000014.8:g.92487743_92487749dup, NG_016970.1:g.23667_23671del, NG_016970.1:g.23668_23671del, NG_016970.1:g.23669_23671del, NG_016970.1:g.23670_23671del, NG_016970.1:g.23671del, NG_016970.1:g.23671dup, NG_016970.1:g.23670_23671dup, NG_016970.1:g.23669_23671dup, NG_016970.1:g.23668_23671dup, NG_016970.1:g.23665_23671dup

                                16.

                                rs1491143097 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->A,ATA,ATATA,ATATACATATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATATA [Show Flanks]
                                  Chromosome:
                                  14:91981013 (GRCh38)
                                  14:92447358 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:91981013::A,NC_000014.9:91981013::ATA,NC_000014.9:91981013::ATATA,NC_000014.9:91981013::ATATACATATATA,NC_000014.9:91981013::ATATATA,NC_000014.9:91981013::ATATATATA,NC_000014.9:91981013::ATATATATATA,NC_000014.9:91981013::ATATATATATATA,NC_000014.9:91981013::ATATATATATATATA,NC_000014.9:91981013::ATATATATATATATATATA
                                  Gene:
                                  TRIP11 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ATA=0./0 (ALFA)
                                  A=0.05646/90 (Korea1K)
                                  HGVS:
                                  NC_000014.9:g.91981013_91981014insA, NC_000014.9:g.91981013_91981014insATA, NC_000014.9:g.91981013_91981014insATATA, NC_000014.9:g.91981013_91981014insATATACATATATA, NC_000014.9:g.91981013_91981014insATATATA, NC_000014.9:g.91981013_91981014insATATATATA, NC_000014.9:g.91981013_91981014insATATATATATA, NC_000014.9:g.91981013_91981014insATATATATATATA, NC_000014.9:g.91981013_91981014insATATATATATATATA, NC_000014.9:g.91981013_91981014insATATATATATATATATATA, NC_000014.8:g.92447357_92447358insA, NC_000014.8:g.92447357_92447358insATA, NC_000014.8:g.92447357_92447358insATATA, NC_000014.8:g.92447357_92447358insATATACATATATA, NC_000014.8:g.92447357_92447358insATATATA, NC_000014.8:g.92447357_92447358insATATATATA, NC_000014.8:g.92447357_92447358insATATATATATA, NC_000014.8:g.92447357_92447358insATATATATATATA, NC_000014.8:g.92447357_92447358insATATATATATATATA, NC_000014.8:g.92447357_92447358insATATATATATATATATATA, NG_016970.1:g.64046_64047insT, NG_016970.1:g.64046_64047insTAT, NG_016970.1:g.64046_64047insTATAT, NG_016970.1:g.64046_64047insTATATATGTATAT, NG_016970.1:g.64046_64047insTATATAT, NG_016970.1:g.64046_64047insTATATATAT, NG_016970.1:g.64046_64047insTATATATATAT, NG_016970.1:g.64046_64047insTATATATATATAT, NG_016970.1:g.64046_64047insTATATATATATATAT, NG_016970.1:g.64046_64047insTATATATATATATATATAT

                                  17.

                                  rs1491096126 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CT>- [Show Flanks]
                                    Chromosome:
                                    14:91994258 (GRCh38)
                                    14:92460602 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:91994257:CT:
                                    Gene:
                                    TRIP11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.009863/117 (ALFA)
                                    -=0.013285/1725 (GnomAD)
                                    -=0.019519/125 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1491093593 has merged into rs55828319 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAAAAAA>-,A,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      14:92030212 (GRCh38)
                                      14:92496556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:92030203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      TRIP11 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000014.9:g.92030212_92030225del, NC_000014.9:g.92030213_92030225del, NC_000014.9:g.92030215_92030225del, NC_000014.9:g.92030219_92030225del, NC_000014.9:g.92030220_92030225del, NC_000014.9:g.92030221_92030225del, NC_000014.9:g.92030222_92030225del, NC_000014.9:g.92030223_92030225del, NC_000014.9:g.92030224_92030225del, NC_000014.9:g.92030225del, NC_000014.9:g.92030225dup, NC_000014.9:g.92030224_92030225dup, NC_000014.9:g.92030223_92030225dup, NC_000014.9:g.92030222_92030225dup, NC_000014.9:g.92030221_92030225dup, NC_000014.9:g.92030220_92030225dup, NC_000014.9:g.92030219_92030225dup, NC_000014.9:g.92030218_92030225dup, NC_000014.9:g.92030208_92030225dup, NC_000014.8:g.92496556_92496569del, NC_000014.8:g.92496557_92496569del, NC_000014.8:g.92496559_92496569del, NC_000014.8:g.92496563_92496569del, NC_000014.8:g.92496564_92496569del, NC_000014.8:g.92496565_92496569del, NC_000014.8:g.92496566_92496569del, NC_000014.8:g.92496567_92496569del, NC_000014.8:g.92496568_92496569del, NC_000014.8:g.92496569del, NC_000014.8:g.92496569dup, NC_000014.8:g.92496568_92496569dup, NC_000014.8:g.92496567_92496569dup, NC_000014.8:g.92496566_92496569dup, NC_000014.8:g.92496565_92496569dup, NC_000014.8:g.92496564_92496569dup, NC_000014.8:g.92496563_92496569dup, NC_000014.8:g.92496562_92496569dup, NC_000014.8:g.92496552_92496569dup, NG_016970.1:g.14843_14856del, NG_016970.1:g.14844_14856del, NG_016970.1:g.14846_14856del, NG_016970.1:g.14850_14856del, NG_016970.1:g.14851_14856del, NG_016970.1:g.14852_14856del, NG_016970.1:g.14853_14856del, NG_016970.1:g.14854_14856del, NG_016970.1:g.14855_14856del, NG_016970.1:g.14856del, NG_016970.1:g.14856dup, NG_016970.1:g.14855_14856dup, NG_016970.1:g.14854_14856dup, NG_016970.1:g.14853_14856dup, NG_016970.1:g.14852_14856dup, NG_016970.1:g.14851_14856dup, NG_016970.1:g.14850_14856dup, NG_016970.1:g.14849_14856dup, NG_016970.1:g.14839_14856dup

                                      19.

                                      rs1491046882 has merged into rs1225131352 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                                        Chromosome:
                                        14:92042956 (GRCh38)
                                        14:92509300 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000014.9:92042946:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA
                                        Gene:
                                        LOC124903363 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        ATATATATATATA=0./0 (ALFA)
                                        HGVS:
                                        NC_000014.9:g.92042948TA[4], NC_000014.9:g.92042948TA[5], NC_000014.9:g.92042948TA[6], NC_000014.9:g.92042948TA[7], NC_000014.9:g.92042948TA[8], NC_000014.9:g.92042948TA[9], NC_000014.9:g.92042948TA[10], NC_000014.9:g.92042948TA[11], NC_000014.9:g.92042948TA[12], NC_000014.9:g.92042948TA[13], NC_000014.9:g.92042948TA[14], NC_000014.9:g.92042948TA[16], NC_000014.9:g.92042948TA[17], NC_000014.9:g.92042948TA[20], NC_000014.9:g.92042948TA[23], NC_000014.9:g.92042948TA[24], NC_000014.9:g.92042948TA[26], NC_000014.8:g.92509292TA[4], NC_000014.8:g.92509292TA[5], NC_000014.8:g.92509292TA[6], NC_000014.8:g.92509292TA[7], NC_000014.8:g.92509292TA[8], NC_000014.8:g.92509292TA[9], NC_000014.8:g.92509292TA[10], NC_000014.8:g.92509292TA[11], NC_000014.8:g.92509292TA[12], NC_000014.8:g.92509292TA[13], NC_000014.8:g.92509292TA[14], NC_000014.8:g.92509292TA[16], NC_000014.8:g.92509292TA[17], NC_000014.8:g.92509292TA[20], NC_000014.8:g.92509292TA[23], NC_000014.8:g.92509292TA[24], NC_000014.8:g.92509292TA[26], NG_008198.2:g.68646AT[4], NG_008198.2:g.68646AT[5], NG_008198.2:g.68646AT[6], NG_008198.2:g.68646AT[7], NG_008198.2:g.68646AT[8], NG_008198.2:g.68646AT[9], NG_008198.2:g.68646AT[10], NG_008198.2:g.68646AT[11], NG_008198.2:g.68646AT[12], NG_008198.2:g.68646AT[13], NG_008198.2:g.68646AT[14], NG_008198.2:g.68646AT[16], NG_008198.2:g.68646AT[17], NG_008198.2:g.68646AT[20], NG_008198.2:g.68646AT[23], NG_008198.2:g.68646AT[24], NG_008198.2:g.68646AT[26], NG_016970.1:g.2084AT[4], NG_016970.1:g.2084AT[5], NG_016970.1:g.2084AT[6], NG_016970.1:g.2084AT[7], NG_016970.1:g.2084AT[8], NG_016970.1:g.2084AT[9], NG_016970.1:g.2084AT[10], NG_016970.1:g.2084AT[11], NG_016970.1:g.2084AT[12], NG_016970.1:g.2084AT[13], NG_016970.1:g.2084AT[14], NG_016970.1:g.2084AT[16], NG_016970.1:g.2084AT[17], NG_016970.1:g.2084AT[20], NG_016970.1:g.2084AT[23], NG_016970.1:g.2084AT[24], NG_016970.1:g.2084AT[26]

                                        20.

                                        rs1491037065 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->GAAAAAAAAAAAAATAAAAAAAAAAAAAAAA
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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