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Items: 1 to 20 of 6074

1.

rs1491481100 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->AGAAAAAAAAAAAAAAAA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491415103 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      14:21493738 (GRCh38)
      14:21961897 (GRCh37)
      Canonical SPDI:
      NC_000014.9:21493737:CT:
      Gene:
      TOX4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000016/2 (GnomAD)
      -=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1491390693 has merged into rs11408746 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        14:21475442 (GRCh38)
        14:21943601 (GRCh37)
        Canonical SPDI:
        NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21475430:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        TOX4 (Varview), RAB2B (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.003114/12 (ALSPAC)
        -=0.003776/14 (TWINSUK)
        -=0.320887/1607 (1000Genomes)
        HGVS:
        NC_000014.9:g.21475442_21475448del, NC_000014.9:g.21475443_21475448del, NC_000014.9:g.21475444_21475448del, NC_000014.9:g.21475445_21475448del, NC_000014.9:g.21475446_21475448del, NC_000014.9:g.21475447_21475448del, NC_000014.9:g.21475448del, NC_000014.9:g.21475448dup, NC_000014.9:g.21475447_21475448dup, NC_000014.9:g.21475446_21475448dup, NC_000014.9:g.21475445_21475448dup, NC_000014.9:g.21475444_21475448dup, NC_000014.9:g.21475442_21475448dup, NC_000014.9:g.21475439_21475448dup, NC_000014.8:g.21943601_21943607del, NC_000014.8:g.21943602_21943607del, NC_000014.8:g.21943603_21943607del, NC_000014.8:g.21943604_21943607del, NC_000014.8:g.21943605_21943607del, NC_000014.8:g.21943606_21943607del, NC_000014.8:g.21943607del, NC_000014.8:g.21943607dup, NC_000014.8:g.21943606_21943607dup, NC_000014.8:g.21943605_21943607dup, NC_000014.8:g.21943604_21943607dup, NC_000014.8:g.21943603_21943607dup, NC_000014.8:g.21943601_21943607dup, NC_000014.8:g.21943598_21943607dup
        4.

        rs1491333157 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          14:21475431 (GRCh38)
          14:21943591 (GRCh37)
          Canonical SPDI:
          NC_000014.9:21475431::G
          Gene:
          TOX4 (Varview), RAB2B (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.00043/3 (GnomAD)
          HGVS:
          5.

          rs1491280355 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            14:21492265 (GRCh38)
            14:21960425 (GRCh37)
            Canonical SPDI:
            NC_000014.9:21492265:G:GG
            Gene:
            TOX4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by cluster
            HGVS:
            6.

            rs1491272682 has merged into rs796419920 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              14:21497516 (GRCh38)
              14:21965672 (GRCh37)
              Canonical SPDI:
              NC_000014.9:21497514:TTTTTT:T,NC_000014.9:21497514:TTTTTT:TT,NC_000014.9:21497514:TTTTTT:TTT,NC_000014.9:21497514:TTTTTT:TTTT,NC_000014.9:21497514:TTTTTT:TTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21497514:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              TOX4 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:
              NC_000014.9:g.21497516_21497520del, NC_000014.9:g.21497517_21497520del, NC_000014.9:g.21497518_21497520del, NC_000014.9:g.21497519_21497520del, NC_000014.9:g.21497520dup, NC_000014.9:g.21497519_21497520dup, NC_000014.9:g.21497518_21497520dup, NC_000014.9:g.21497517_21497520dup, NC_000014.9:g.21497516_21497520dup, NC_000014.9:g.21497515_21497520dup, NC_000014.9:g.21497520_21497521insTTTTTTT, NC_000014.9:g.21497520_21497521insTTTTTTTTTT, NC_000014.9:g.21497520_21497521insTTTTTTTTTTTTTTTT, NC_000014.9:g.21497520_21497521insTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.21497520_21497521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21965672_21965676del, NC_000014.8:g.21965673_21965676del, NC_000014.8:g.21965674_21965676del, NC_000014.8:g.21965675_21965676del, NC_000014.8:g.21965676dup, NC_000014.8:g.21965675_21965676dup, NC_000014.8:g.21965674_21965676dup, NC_000014.8:g.21965673_21965676dup, NC_000014.8:g.21965672_21965676dup, NC_000014.8:g.21965671_21965676dup, NC_000014.8:g.21965676_21965677insTTTTTTT, NC_000014.8:g.21965676_21965677insTTTTTTTTTT, NC_000014.8:g.21965676_21965677insTTTTTTTTTTTTTTTT, NC_000014.8:g.21965676_21965677insTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21965676_21965677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014828.4:c.*910_*914del, NM_014828.4:c.*911_*914del, NM_014828.4:c.*912_*914del, NM_014828.4:c.*913_*914del, NM_014828.4:c.*914dup, NM_014828.4:c.*913_*914dup, NM_014828.4:c.*912_*914dup, NM_014828.4:c.*911_*914dup, NM_014828.4:c.*910_*914dup, NM_014828.4:c.*909_*914dup, NM_014828.4:c.*914_*915insTTTTTTT, NM_014828.4:c.*914_*915insTTTTTTTTTT, NM_014828.4:c.*914_*915insTTTTTTTTTTTTTTTT, NM_014828.4:c.*914_*915insTTTTTTTTTTTTTTTTTTT, NM_014828.4:c.*914_*915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_014828.3:c.*910_*914del, NM_014828.3:c.*911_*914del, NM_014828.3:c.*912_*914del, NM_014828.3:c.*913_*914del, NM_014828.3:c.*914dup, NM_014828.3:c.*913_*914dup, NM_014828.3:c.*912_*914dup, NM_014828.3:c.*911_*914dup, NM_014828.3:c.*910_*914dup, NM_014828.3:c.*909_*914dup, NM_014828.3:c.*914_*915insTTTTTTT, NM_014828.3:c.*914_*915insTTTTTTTTTT, NM_014828.3:c.*914_*915insTTTTTTTTTTTTTTTT, NM_014828.3:c.*914_*915insTTTTTTTTTTTTTTTTTTT, NM_014828.3:c.*914_*915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001303523.2:c.*910_*914del, NM_001303523.2:c.*911_*914del, NM_001303523.2:c.*912_*914del, NM_001303523.2:c.*913_*914del, NM_001303523.2:c.*914dup, NM_001303523.2:c.*913_*914dup, NM_001303523.2:c.*912_*914dup, NM_001303523.2:c.*911_*914dup, NM_001303523.2:c.*910_*914dup, NM_001303523.2:c.*909_*914dup, NM_001303523.2:c.*914_*915insTTTTTTT, NM_001303523.2:c.*914_*915insTTTTTTTTTT, NM_001303523.2:c.*914_*915insTTTTTTTTTTTTTTTT, NM_001303523.2:c.*914_*915insTTTTTTTTTTTTTTTTTTT, NM_001303523.2:c.*914_*915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001303523.1:c.*910_*914del, NM_001303523.1:c.*911_*914del, NM_001303523.1:c.*912_*914del, NM_001303523.1:c.*913_*914del, NM_001303523.1:c.*914dup, NM_001303523.1:c.*913_*914dup, NM_001303523.1:c.*912_*914dup, NM_001303523.1:c.*911_*914dup, NM_001303523.1:c.*910_*914dup, NM_001303523.1:c.*909_*914dup, NM_001303523.1:c.*914_*915insTTTTTTT, NM_001303523.1:c.*914_*915insTTTTTTTTTT, NM_001303523.1:c.*914_*915insTTTTTTTTTTTTTTTT, NM_001303523.1:c.*914_*915insTTTTTTTTTTTTTTTTTTT, NM_001303523.1:c.*914_*915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491170164 has merged into rs570396556 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
                Chromosome:
                14:21496223 (GRCh38)
                14:21964381 (GRCh37)
                Canonical SPDI:
                NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:21496211:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                Gene:
                TOX4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.0901/451 (1000Genomes)
                A=0.3/12 (GENOME_DK)
                HGVS:
                8.

                rs1491040897 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CG [Show Flanks]
                  Chromosome:
                  14:21483817 (GRCh38)
                  14:21951977 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:21483817:GCGCG:GCGCGCG
                  Gene:
                  TOX4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GCGCGCG=0./0 (ALFA)
                  GC=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490972531 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:21486759 (GRCh38)
                    14:21954918 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:21486758:T:C
                    Gene:
                    TOX4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490485103 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:21498982 (GRCh38)
                      14:21967126 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:21498981:A:G
                      Gene:
                      TOX4 (Varview), METTL3 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000111/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1490429671 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:21493832 (GRCh38)
                        14:21961991 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:21493831:T:C
                        Gene:
                        TOX4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000071/1 (TOMMO)
                        HGVS:
                        12.

                        rs1490394057 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:21494782 (GRCh38)
                          14:21962941 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:21494781:G:A
                          Gene:
                          TOX4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490376108 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            14:21477845 (GRCh38)
                            14:21946005 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:21477845:GGGG:GGGGG
                            Gene:
                            TOX4 (Varview), RAB2B (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGGG=0./0 (ALFA)
                            G=0.000015/4 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1490374938 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              14:21478961 (GRCh38)
                              14:21947120 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:21478960:A:C,NC_000014.9:21478960:A:G
                              Gene:
                              TOX4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000019/2 (GnomAD)
                              C=0.000389/11 (TOMMO)
                              C=0.001092/2 (Korea1K)
                              C=0.041124/120 (KOREAN)
                              HGVS:
                              15.

                              rs1490352249 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                14:21478784 (GRCh38)
                                14:21946943 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:21478783:CC:C
                                Gene:
                                TOX4 (Varview), RAB2B (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000029/4 (GnomAD)
                                -=0.000038/10 (TOPMED)
                                HGVS:
                                16.

                                rs1490228553 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  14:21495124 (GRCh38)
                                  14:21963283 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:21495123:A:G,NC_000014.9:21495123:A:T
                                  Gene:
                                  TOX4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490156483 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    14:21493223 (GRCh38)
                                    14:21961382 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:21493222:C:A
                                    Gene:
                                    TOX4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1490145253 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:21486029 (GRCh38)
                                      14:21954188 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:21486028:C:T
                                      Gene:
                                      TOX4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490048024 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CTC [Show Flanks]
                                        Chromosome:
                                        14:21477143 (GRCh38)
                                        14:21945303 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:21477143:CTC:CTCCTC
                                        Gene:
                                        TOX4 (Varview), RAB2B (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTCCTC=0./0 (ALFA)
                                        CTC=0.000007/1 (GnomAD)
                                        CTC=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489993664 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:21496509 (GRCh38)
                                          14:21964667 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:21496508:G:A
                                          Gene:
                                          TOX4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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