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Items: 1 to 20 of 562

1.

rs1489805217 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:84670720 (GRCh38)
    1:85136403 (GRCh37)
    Canonical SPDI:
    NC_000001.11:84670719:T:G
    Gene:
    SSX2IP (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.84670720T>G, NC_000001.10:g.85136403T>G, NM_014021.4:c.139A>C, NM_014021.3:c.139A>C, XM_005270427.3:c.139A>C, XM_005270427.2:c.139A>C, XM_005270427.1:c.139A>C, XM_005270429.3:c.139A>C, XM_005270429.2:c.139A>C, XM_005270429.1:c.139A>C, XM_006710331.3:c.58A>C, XM_006710331.2:c.58A>C, XM_006710331.1:c.58A>C, XM_017000234.3:c.139A>C, XM_017000234.2:c.139A>C, XM_017000234.1:c.139A>C, XM_017000236.3:c.139A>C, XM_017000236.2:c.139A>C, XM_017000236.1:c.139A>C, XM_011540612.3:c.139A>C, XM_011540612.2:c.139A>C, XM_011540612.1:c.139A>C, XM_017000235.3:c.139A>C, XM_017000235.2:c.139A>C, XM_017000235.1:c.139A>C, XM_005270428.3:c.139A>C, XM_005270428.2:c.139A>C, XM_005270428.1:c.139A>C, NM_001166417.2:c.139A>C, NM_001166417.1:c.139A>C, NM_001166295.2:c.58A>C, NM_001166295.1:c.58A>C, XM_024453015.2:c.139A>C, XM_024453015.1:c.139A>C, NM_001166293.2:c.139A>C, NM_001166293.1:c.139A>C, NM_001166294.2:c.58A>C, NM_001166294.1:c.58A>C, XM_047444197.1:c.139A>C, XM_047444228.1:c.139A>C, XM_047444261.1:c.139A>C, XM_047444216.1:c.139A>C, XM_047444202.1:c.139A>C, XM_047444250.1:c.58A>C, XM_047444257.1:c.139A>C, XM_047444265.1:c.139A>C, XM_047444208.1:c.139A>C, XM_047444231.1:c.139A>C, XM_047444234.1:c.139A>C, XM_047444248.1:c.58A>C, XM_047444276.1:c.58A>C, XM_047444256.1:c.139A>C, XM_047444263.1:c.139A>C, XM_047444259.1:c.139A>C, XM_047444254.1:c.139A>C, XM_047444262.1:c.139A>C, XM_047444269.1:c.139A>C, XM_047444252.1:c.139A>C, XM_047444275.1:c.58A>C, XM_047444251.1:c.139A>C, NP_054740.3:p.Lys47Gln, XP_005270484.1:p.Lys47Gln, XP_005270486.1:p.Lys47Gln, XP_006710394.1:p.Lys20Gln, XP_016855723.1:p.Lys47Gln, XP_016855725.1:p.Lys47Gln, XP_011538914.1:p.Lys47Gln, XP_016855724.1:p.Lys47Gln, XP_005270485.1:p.Lys47Gln, NP_001159889.1:p.Lys47Gln, NP_001159767.1:p.Lys20Gln, XP_024308783.1:p.Lys47Gln, NP_001159765.1:p.Lys47Gln, NP_001159766.1:p.Lys20Gln, XP_047300153.1:p.Lys47Gln, XP_047300184.1:p.Lys47Gln, XP_047300217.1:p.Lys47Gln, XP_047300172.1:p.Lys47Gln, XP_047300158.1:p.Lys47Gln, XP_047300206.1:p.Lys20Gln, XP_047300213.1:p.Lys47Gln, XP_047300221.1:p.Lys47Gln, XP_047300164.1:p.Lys47Gln, XP_047300187.1:p.Lys47Gln, XP_047300190.1:p.Lys47Gln, XP_047300204.1:p.Lys20Gln, XP_047300232.1:p.Lys20Gln, XP_047300212.1:p.Lys47Gln, XP_047300219.1:p.Lys47Gln, XP_047300215.1:p.Lys47Gln, XP_047300210.1:p.Lys47Gln, XP_047300218.1:p.Lys47Gln, XP_047300225.1:p.Lys47Gln, XP_047300208.1:p.Lys47Gln, XP_047300231.1:p.Lys20Gln, XP_047300207.1:p.Lys47Gln

    2.

    rs1488836633 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:84669711 (GRCh38)
      1:85135394 (GRCh37)
      Canonical SPDI:
      NC_000001.11:84669710:G:A
      Gene:
      SSX2IP (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.84669711G>A, NC_000001.10:g.85135394G>A, NM_014021.4:c.396C>T, NM_014021.3:c.396C>T, XM_005270427.3:c.396C>T, XM_005270427.2:c.396C>T, XM_005270427.1:c.396C>T, XM_005270429.3:c.396C>T, XM_005270429.2:c.396C>T, XM_005270429.1:c.396C>T, XM_006710331.3:c.315C>T, XM_006710331.2:c.315C>T, XM_006710331.1:c.315C>T, XM_017000234.3:c.396C>T, XM_017000234.2:c.396C>T, XM_017000234.1:c.396C>T, XM_017000236.3:c.396C>T, XM_017000236.2:c.396C>T, XM_017000236.1:c.396C>T, XM_011540612.3:c.396C>T, XM_011540612.2:c.396C>T, XM_011540612.1:c.396C>T, XM_017000235.3:c.396C>T, XM_017000235.2:c.396C>T, XM_017000235.1:c.396C>T, XM_005270428.3:c.396C>T, XM_005270428.2:c.396C>T, XM_005270428.1:c.396C>T, NM_001166417.2:c.396C>T, NM_001166417.1:c.396C>T, NM_001166295.2:c.315C>T, NM_001166295.1:c.315C>T, XM_024453015.2:c.396C>T, XM_024453015.1:c.396C>T, NM_001166293.2:c.396C>T, NM_001166293.1:c.396C>T, NM_001166294.2:c.315C>T, NM_001166294.1:c.315C>T, XM_047444197.1:c.396C>T, XM_047444228.1:c.396C>T, XM_047444261.1:c.396C>T, XM_047444216.1:c.396C>T, XM_047444202.1:c.396C>T, XM_047444250.1:c.315C>T, XM_047444257.1:c.396C>T, XM_047444265.1:c.396C>T, XM_047444208.1:c.396C>T, XM_047444231.1:c.396C>T, XM_047444234.1:c.396C>T, XM_047444248.1:c.315C>T, XM_047444276.1:c.315C>T, XM_047444256.1:c.396C>T, XM_047444263.1:c.396C>T, XM_047444259.1:c.396C>T, XM_047444254.1:c.396C>T, XM_047444262.1:c.396C>T, XM_047444269.1:c.396C>T, XM_047444252.1:c.396C>T, XM_047444275.1:c.315C>T, XM_047444251.1:c.396C>T

      3.

      rs1488278390 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:84669798 (GRCh38)
        1:85135481 (GRCh37)
        Canonical SPDI:
        NC_000001.11:84669797:C:T
        Gene:
        SSX2IP (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        T=0.000035/1 (TOMMO)
        HGVS:
        NC_000001.11:g.84669798C>T, NC_000001.10:g.85135481C>T, NM_014021.4:c.309G>A, NM_014021.3:c.309G>A, XM_005270427.3:c.309G>A, XM_005270427.2:c.309G>A, XM_005270427.1:c.309G>A, XM_005270429.3:c.309G>A, XM_005270429.2:c.309G>A, XM_005270429.1:c.309G>A, XM_006710331.3:c.228G>A, XM_006710331.2:c.228G>A, XM_006710331.1:c.228G>A, XM_017000234.3:c.309G>A, XM_017000234.2:c.309G>A, XM_017000234.1:c.309G>A, XM_017000236.3:c.309G>A, XM_017000236.2:c.309G>A, XM_017000236.1:c.309G>A, XM_011540612.3:c.309G>A, XM_011540612.2:c.309G>A, XM_011540612.1:c.309G>A, XM_017000235.3:c.309G>A, XM_017000235.2:c.309G>A, XM_017000235.1:c.309G>A, XM_005270428.3:c.309G>A, XM_005270428.2:c.309G>A, XM_005270428.1:c.309G>A, NM_001166417.2:c.309G>A, NM_001166417.1:c.309G>A, NM_001166295.2:c.228G>A, NM_001166295.1:c.228G>A, XM_024453015.2:c.309G>A, XM_024453015.1:c.309G>A, NM_001166293.2:c.309G>A, NM_001166293.1:c.309G>A, NM_001166294.2:c.228G>A, NM_001166294.1:c.228G>A, XM_047444197.1:c.309G>A, XM_047444228.1:c.309G>A, XM_047444261.1:c.309G>A, XM_047444216.1:c.309G>A, XM_047444202.1:c.309G>A, XM_047444250.1:c.228G>A, XM_047444257.1:c.309G>A, XM_047444265.1:c.309G>A, XM_047444208.1:c.309G>A, XM_047444231.1:c.309G>A, XM_047444234.1:c.309G>A, XM_047444248.1:c.228G>A, XM_047444276.1:c.228G>A, XM_047444256.1:c.309G>A, XM_047444263.1:c.309G>A, XM_047444259.1:c.309G>A, XM_047444254.1:c.309G>A, XM_047444262.1:c.309G>A, XM_047444269.1:c.309G>A, XM_047444252.1:c.309G>A, XM_047444275.1:c.228G>A, XM_047444251.1:c.309G>A, NP_054740.3:p.Met103Ile, XP_005270484.1:p.Met103Ile, XP_005270486.1:p.Met103Ile, XP_006710394.1:p.Met76Ile, XP_016855723.1:p.Met103Ile, XP_016855725.1:p.Met103Ile, XP_011538914.1:p.Met103Ile, XP_016855724.1:p.Met103Ile, XP_005270485.1:p.Met103Ile, NP_001159889.1:p.Met103Ile, NP_001159767.1:p.Met76Ile, XP_024308783.1:p.Met103Ile, NP_001159765.1:p.Met103Ile, NP_001159766.1:p.Met76Ile, XP_047300153.1:p.Met103Ile, XP_047300184.1:p.Met103Ile, XP_047300217.1:p.Met103Ile, XP_047300172.1:p.Met103Ile, XP_047300158.1:p.Met103Ile, XP_047300206.1:p.Met76Ile, XP_047300213.1:p.Met103Ile, XP_047300221.1:p.Met103Ile, XP_047300164.1:p.Met103Ile, XP_047300187.1:p.Met103Ile, XP_047300190.1:p.Met103Ile, XP_047300204.1:p.Met76Ile, XP_047300232.1:p.Met76Ile, XP_047300212.1:p.Met103Ile, XP_047300219.1:p.Met103Ile, XP_047300215.1:p.Met103Ile, XP_047300210.1:p.Met103Ile, XP_047300218.1:p.Met103Ile, XP_047300225.1:p.Met103Ile, XP_047300208.1:p.Met103Ile, XP_047300231.1:p.Met76Ile, XP_047300207.1:p.Met103Ile

        4.

        rs1481539303 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:84651934 (GRCh38)
          1:85117617 (GRCh37)
          Canonical SPDI:
          NC_000001.11:84651933:A:G
          Gene:
          SSX2IP (Varview)
          Functional Consequence:
          downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.84651934A>G, NC_000001.10:g.85117617A>G, NM_014021.4:c.1453T>C, NM_014021.3:c.1453T>C, XM_005270427.3:c.1453T>C, XM_005270427.2:c.1453T>C, XM_005270427.1:c.1453T>C, XM_005270429.3:c.1450T>C, XM_005270429.2:c.1450T>C, XM_005270429.1:c.1450T>C, XM_006710331.3:c.1372T>C, XM_006710331.2:c.1372T>C, XM_006710331.1:c.1372T>C, XM_017000234.3:c.1453T>C, XM_017000234.2:c.1453T>C, XM_017000234.1:c.1453T>C, XM_017000236.3:c.1450T>C, XM_017000236.2:c.1450T>C, XM_017000236.1:c.1450T>C, XM_011540612.3:c.1453T>C, XM_011540612.2:c.1453T>C, XM_011540612.1:c.1453T>C, XM_017000235.3:c.1450T>C, XM_017000235.2:c.1450T>C, XM_017000235.1:c.1450T>C, XM_005270428.3:c.1453T>C, XM_005270428.2:c.1453T>C, XM_005270428.1:c.1453T>C, NM_001166417.2:c.1453T>C, NM_001166417.1:c.1453T>C, NM_001166295.2:c.1372T>C, NM_001166295.1:c.1372T>C, XM_024453015.2:c.1450T>C, XM_024453015.1:c.1450T>C, NM_001166293.2:c.1453T>C, NM_001166293.1:c.1453T>C, NM_001166294.2:c.1372T>C, NM_001166294.1:c.1372T>C, XM_047444197.1:c.1453T>C, XM_047444228.1:c.1450T>C, XM_047444261.1:c.1453T>C, XM_047444216.1:c.1453T>C, XM_047444202.1:c.1453T>C, XM_047444250.1:c.1369T>C, XM_047444257.1:c.1453T>C, XM_047444265.1:c.1450T>C, XM_047444208.1:c.1453T>C, XM_047444231.1:c.1450T>C, XM_047444234.1:c.1450T>C, XM_047444248.1:c.1372T>C, XM_047444276.1:c.1369T>C, XM_047444256.1:c.1453T>C, XM_047444263.1:c.1450T>C, XM_047444259.1:c.1453T>C, XM_047444254.1:c.1453T>C, XM_047444262.1:c.1450T>C, XM_047444269.1:c.1450T>C, XM_047444252.1:c.*50T>C, XM_047444251.1:c.*50T>C, NP_054740.3:p.Phe485Leu, XP_005270484.1:p.Phe485Leu, XP_005270486.1:p.Phe484Leu, XP_006710394.1:p.Phe458Leu, XP_016855723.1:p.Phe485Leu, XP_016855725.1:p.Phe484Leu, XP_011538914.1:p.Phe485Leu, XP_016855724.1:p.Phe484Leu, XP_005270485.1:p.Phe485Leu, NP_001159889.1:p.Phe485Leu, NP_001159767.1:p.Phe458Leu, XP_024308783.1:p.Phe484Leu, NP_001159765.1:p.Phe485Leu, NP_001159766.1:p.Phe458Leu, XP_047300153.1:p.Phe485Leu, XP_047300184.1:p.Phe484Leu, XP_047300217.1:p.Phe485Leu, XP_047300172.1:p.Phe485Leu, XP_047300158.1:p.Phe485Leu, XP_047300206.1:p.Phe457Leu, XP_047300213.1:p.Phe485Leu, XP_047300221.1:p.Phe484Leu, XP_047300164.1:p.Phe485Leu, XP_047300187.1:p.Phe484Leu, XP_047300190.1:p.Phe484Leu, XP_047300204.1:p.Phe458Leu, XP_047300232.1:p.Phe457Leu, XP_047300212.1:p.Phe485Leu, XP_047300219.1:p.Phe484Leu, XP_047300215.1:p.Phe485Leu, XP_047300210.1:p.Phe485Leu, XP_047300218.1:p.Phe484Leu, XP_047300225.1:p.Phe484Leu

          5.

          rs1478513277 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:84670724 (GRCh38)
            1:85136407 (GRCh37)
            Canonical SPDI:
            NC_000001.11:84670723:T:C
            Gene:
            SSX2IP (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.84670724T>C, NC_000001.10:g.85136407T>C, NM_014021.4:c.135A>G, NM_014021.3:c.135A>G, XM_005270427.3:c.135A>G, XM_005270427.2:c.135A>G, XM_005270427.1:c.135A>G, XM_005270429.3:c.135A>G, XM_005270429.2:c.135A>G, XM_005270429.1:c.135A>G, XM_006710331.3:c.54A>G, XM_006710331.2:c.54A>G, XM_006710331.1:c.54A>G, XM_017000234.3:c.135A>G, XM_017000234.2:c.135A>G, XM_017000234.1:c.135A>G, XM_017000236.3:c.135A>G, XM_017000236.2:c.135A>G, XM_017000236.1:c.135A>G, XM_011540612.3:c.135A>G, XM_011540612.2:c.135A>G, XM_011540612.1:c.135A>G, XM_017000235.3:c.135A>G, XM_017000235.2:c.135A>G, XM_017000235.1:c.135A>G, XM_005270428.3:c.135A>G, XM_005270428.2:c.135A>G, XM_005270428.1:c.135A>G, NM_001166417.2:c.135A>G, NM_001166417.1:c.135A>G, NM_001166295.2:c.54A>G, NM_001166295.1:c.54A>G, XM_024453015.2:c.135A>G, XM_024453015.1:c.135A>G, NM_001166293.2:c.135A>G, NM_001166293.1:c.135A>G, NM_001166294.2:c.54A>G, NM_001166294.1:c.54A>G, XM_047444197.1:c.135A>G, XM_047444228.1:c.135A>G, XM_047444261.1:c.135A>G, XM_047444216.1:c.135A>G, XM_047444202.1:c.135A>G, XM_047444250.1:c.54A>G, XM_047444257.1:c.135A>G, XM_047444265.1:c.135A>G, XM_047444208.1:c.135A>G, XM_047444231.1:c.135A>G, XM_047444234.1:c.135A>G, XM_047444248.1:c.54A>G, XM_047444276.1:c.54A>G, XM_047444256.1:c.135A>G, XM_047444263.1:c.135A>G, XM_047444259.1:c.135A>G, XM_047444254.1:c.135A>G, XM_047444262.1:c.135A>G, XM_047444269.1:c.135A>G, XM_047444252.1:c.135A>G, XM_047444275.1:c.54A>G, XM_047444251.1:c.135A>G

            6.

            rs1477829692 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:84656428 (GRCh38)
              1:85122111 (GRCh37)
              Canonical SPDI:
              NC_000001.11:84656427:G:A
              Gene:
              SSX2IP (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.84656428G>A, NC_000001.10:g.85122111G>A, NM_014021.4:c.1135C>T, NM_014021.3:c.1135C>T, XM_005270427.3:c.1135C>T, XM_005270427.2:c.1135C>T, XM_005270427.1:c.1135C>T, XM_005270429.3:c.1135C>T, XM_005270429.2:c.1135C>T, XM_005270429.1:c.1135C>T, XM_006710331.3:c.1054C>T, XM_006710331.2:c.1054C>T, XM_006710331.1:c.1054C>T, XM_017000234.3:c.1135C>T, XM_017000234.2:c.1135C>T, XM_017000234.1:c.1135C>T, XM_017000236.3:c.1135C>T, XM_017000236.2:c.1135C>T, XM_017000236.1:c.1135C>T, XM_011540612.3:c.1135C>T, XM_011540612.2:c.1135C>T, XM_011540612.1:c.1135C>T, XM_017000235.3:c.1135C>T, XM_017000235.2:c.1135C>T, XM_017000235.1:c.1135C>T, XM_005270428.3:c.1135C>T, XM_005270428.2:c.1135C>T, XM_005270428.1:c.1135C>T, NM_001166417.2:c.1135C>T, NM_001166417.1:c.1135C>T, NM_001166295.2:c.1054C>T, NM_001166295.1:c.1054C>T, XM_024453015.2:c.1135C>T, XM_024453015.1:c.1135C>T, NM_001166293.2:c.1135C>T, NM_001166293.1:c.1135C>T, NM_001166294.2:c.1054C>T, NM_001166294.1:c.1054C>T, XM_047444197.1:c.1135C>T, XM_047444228.1:c.1135C>T, XM_047444261.1:c.1135C>T, XM_047444216.1:c.1135C>T, XM_047444202.1:c.1135C>T, XM_047444250.1:c.1054C>T, XM_047444257.1:c.1135C>T, XM_047444265.1:c.1135C>T, XM_047444208.1:c.1135C>T, XM_047444231.1:c.1135C>T, XM_047444234.1:c.1135C>T, XM_047444248.1:c.1054C>T, XM_047444276.1:c.1054C>T, XM_047444256.1:c.1135C>T, XM_047444263.1:c.1135C>T, XM_047444259.1:c.1135C>T, XM_047444254.1:c.1135C>T, XM_047444262.1:c.1135C>T, XM_047444269.1:c.1135C>T, XM_047444252.1:c.1135C>T, XM_047444275.1:c.1054C>T, XM_047444251.1:c.1135C>T, NP_054740.3:p.His379Tyr, XP_005270484.1:p.His379Tyr, XP_005270486.1:p.His379Tyr, XP_006710394.1:p.His352Tyr, XP_016855723.1:p.His379Tyr, XP_016855725.1:p.His379Tyr, XP_011538914.1:p.His379Tyr, XP_016855724.1:p.His379Tyr, XP_005270485.1:p.His379Tyr, NP_001159889.1:p.His379Tyr, NP_001159767.1:p.His352Tyr, XP_024308783.1:p.His379Tyr, NP_001159765.1:p.His379Tyr, NP_001159766.1:p.His352Tyr, XP_047300153.1:p.His379Tyr, XP_047300184.1:p.His379Tyr, XP_047300217.1:p.His379Tyr, XP_047300172.1:p.His379Tyr, XP_047300158.1:p.His379Tyr, XP_047300206.1:p.His352Tyr, XP_047300213.1:p.His379Tyr, XP_047300221.1:p.His379Tyr, XP_047300164.1:p.His379Tyr, XP_047300187.1:p.His379Tyr, XP_047300190.1:p.His379Tyr, XP_047300204.1:p.His352Tyr, XP_047300232.1:p.His352Tyr, XP_047300212.1:p.His379Tyr, XP_047300219.1:p.His379Tyr, XP_047300215.1:p.His379Tyr, XP_047300210.1:p.His379Tyr, XP_047300218.1:p.His379Tyr, XP_047300225.1:p.His379Tyr, XP_047300208.1:p.His379Tyr, XP_047300231.1:p.His352Tyr, XP_047300207.1:p.His379Tyr

              7.

              rs1477793113 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                1:84662284 (GRCh38)
                1:85127967 (GRCh37)
                Canonical SPDI:
                NC_000001.11:84662283:G:A,NC_000001.11:84662283:G:T
                Gene:
                SSX2IP (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                A=0.000106/2 (TOMMO)
                HGVS:
                NC_000001.11:g.84662284G>A, NC_000001.11:g.84662284G>T, NC_000001.10:g.85127967G>A, NC_000001.10:g.85127967G>T, NM_014021.4:c.841C>T, NM_014021.4:c.841C>A, NM_014021.3:c.841C>T, NM_014021.3:c.841C>A, XM_005270427.3:c.841C>T, XM_005270427.3:c.841C>A, XM_005270427.2:c.841C>T, XM_005270427.2:c.841C>A, XM_005270427.1:c.841C>T, XM_005270427.1:c.841C>A, XM_005270429.3:c.841C>T, XM_005270429.3:c.841C>A, XM_005270429.2:c.841C>T, XM_005270429.2:c.841C>A, XM_005270429.1:c.841C>T, XM_005270429.1:c.841C>A, XM_006710331.3:c.760C>T, XM_006710331.3:c.760C>A, XM_006710331.2:c.760C>T, XM_006710331.2:c.760C>A, XM_006710331.1:c.760C>T, XM_006710331.1:c.760C>A, XM_017000234.3:c.841C>T, XM_017000234.3:c.841C>A, XM_017000234.2:c.841C>T, XM_017000234.2:c.841C>A, XM_017000234.1:c.841C>T, XM_017000234.1:c.841C>A, XM_017000236.3:c.841C>T, XM_017000236.3:c.841C>A, XM_017000236.2:c.841C>T, XM_017000236.2:c.841C>A, XM_017000236.1:c.841C>T, XM_017000236.1:c.841C>A, XM_011540612.3:c.841C>T, XM_011540612.3:c.841C>A, XM_011540612.2:c.841C>T, XM_011540612.2:c.841C>A, XM_011540612.1:c.841C>T, XM_011540612.1:c.841C>A, XM_017000235.3:c.841C>T, XM_017000235.3:c.841C>A, XM_017000235.2:c.841C>T, XM_017000235.2:c.841C>A, XM_017000235.1:c.841C>T, XM_017000235.1:c.841C>A, XM_005270428.3:c.841C>T, XM_005270428.3:c.841C>A, XM_005270428.2:c.841C>T, XM_005270428.2:c.841C>A, XM_005270428.1:c.841C>T, XM_005270428.1:c.841C>A, NM_001166417.2:c.841C>T, NM_001166417.2:c.841C>A, NM_001166417.1:c.841C>T, NM_001166417.1:c.841C>A, NM_001166295.2:c.760C>T, NM_001166295.2:c.760C>A, NM_001166295.1:c.760C>T, NM_001166295.1:c.760C>A, XM_024453015.2:c.841C>T, XM_024453015.2:c.841C>A, XM_024453015.1:c.841C>T, XM_024453015.1:c.841C>A, NM_001166293.2:c.841C>T, NM_001166293.2:c.841C>A, NM_001166293.1:c.841C>T, NM_001166293.1:c.841C>A, NM_001166294.2:c.760C>T, NM_001166294.2:c.760C>A, NM_001166294.1:c.760C>T, NM_001166294.1:c.760C>A, XM_047444197.1:c.841C>T, XM_047444197.1:c.841C>A, XM_047444228.1:c.841C>T, XM_047444228.1:c.841C>A, XM_047444261.1:c.841C>T, XM_047444261.1:c.841C>A, XM_047444216.1:c.841C>T, XM_047444216.1:c.841C>A, XM_047444202.1:c.841C>T, XM_047444202.1:c.841C>A, XM_047444250.1:c.760C>T, XM_047444250.1:c.760C>A, XM_047444257.1:c.841C>T, XM_047444257.1:c.841C>A, XM_047444265.1:c.841C>T, XM_047444265.1:c.841C>A, XM_047444208.1:c.841C>T, XM_047444208.1:c.841C>A, XM_047444231.1:c.841C>T, XM_047444231.1:c.841C>A, XM_047444234.1:c.841C>T, XM_047444234.1:c.841C>A, XM_047444248.1:c.760C>T, XM_047444248.1:c.760C>A, XM_047444276.1:c.760C>T, XM_047444276.1:c.760C>A, XM_047444256.1:c.841C>T, XM_047444256.1:c.841C>A, XM_047444263.1:c.841C>T, XM_047444263.1:c.841C>A, XM_047444259.1:c.841C>T, XM_047444259.1:c.841C>A, XM_047444254.1:c.841C>T, XM_047444254.1:c.841C>A, XM_047444262.1:c.841C>T, XM_047444262.1:c.841C>A, XM_047444269.1:c.841C>T, XM_047444269.1:c.841C>A, XM_047444252.1:c.841C>T, XM_047444252.1:c.841C>A, XM_047444275.1:c.760C>T, XM_047444275.1:c.760C>A, XM_047444251.1:c.841C>T, XM_047444251.1:c.841C>A, NP_054740.3:p.Leu281Phe, NP_054740.3:p.Leu281Ile, XP_005270484.1:p.Leu281Phe, XP_005270484.1:p.Leu281Ile, XP_005270486.1:p.Leu281Phe, XP_005270486.1:p.Leu281Ile, XP_006710394.1:p.Leu254Phe, XP_006710394.1:p.Leu254Ile, XP_016855723.1:p.Leu281Phe, XP_016855723.1:p.Leu281Ile, XP_016855725.1:p.Leu281Phe, XP_016855725.1:p.Leu281Ile, XP_011538914.1:p.Leu281Phe, XP_011538914.1:p.Leu281Ile, XP_016855724.1:p.Leu281Phe, XP_016855724.1:p.Leu281Ile, XP_005270485.1:p.Leu281Phe, XP_005270485.1:p.Leu281Ile, NP_001159889.1:p.Leu281Phe, NP_001159889.1:p.Leu281Ile, NP_001159767.1:p.Leu254Phe, NP_001159767.1:p.Leu254Ile, XP_024308783.1:p.Leu281Phe, XP_024308783.1:p.Leu281Ile, NP_001159765.1:p.Leu281Phe, NP_001159765.1:p.Leu281Ile, NP_001159766.1:p.Leu254Phe, NP_001159766.1:p.Leu254Ile, XP_047300153.1:p.Leu281Phe, XP_047300153.1:p.Leu281Ile, XP_047300184.1:p.Leu281Phe, XP_047300184.1:p.Leu281Ile, XP_047300217.1:p.Leu281Phe, XP_047300217.1:p.Leu281Ile, XP_047300172.1:p.Leu281Phe, XP_047300172.1:p.Leu281Ile, XP_047300158.1:p.Leu281Phe, XP_047300158.1:p.Leu281Ile, XP_047300206.1:p.Leu254Phe, XP_047300206.1:p.Leu254Ile, XP_047300213.1:p.Leu281Phe, XP_047300213.1:p.Leu281Ile, XP_047300221.1:p.Leu281Phe, XP_047300221.1:p.Leu281Ile, XP_047300164.1:p.Leu281Phe, XP_047300164.1:p.Leu281Ile, XP_047300187.1:p.Leu281Phe, XP_047300187.1:p.Leu281Ile, XP_047300190.1:p.Leu281Phe, XP_047300190.1:p.Leu281Ile, XP_047300204.1:p.Leu254Phe, XP_047300204.1:p.Leu254Ile, XP_047300232.1:p.Leu254Phe, XP_047300232.1:p.Leu254Ile, XP_047300212.1:p.Leu281Phe, XP_047300212.1:p.Leu281Ile, XP_047300219.1:p.Leu281Phe, XP_047300219.1:p.Leu281Ile, XP_047300215.1:p.Leu281Phe, XP_047300215.1:p.Leu281Ile, XP_047300210.1:p.Leu281Phe, XP_047300210.1:p.Leu281Ile, XP_047300218.1:p.Leu281Phe, XP_047300218.1:p.Leu281Ile, XP_047300225.1:p.Leu281Phe, XP_047300225.1:p.Leu281Ile, XP_047300208.1:p.Leu281Phe, XP_047300208.1:p.Leu281Ile, XP_047300231.1:p.Leu254Phe, XP_047300231.1:p.Leu254Ile, XP_047300207.1:p.Leu281Phe, XP_047300207.1:p.Leu281Ile

                8.

                rs1476916179 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:84664434 (GRCh38)
                  1:85130117 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:84664433:T:C
                  Gene:
                  SSX2IP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000001.11:g.84664434T>C, NC_000001.10:g.85130117T>C, NM_014021.4:c.656A>G, NM_014021.3:c.656A>G, XM_005270427.3:c.656A>G, XM_005270427.2:c.656A>G, XM_005270427.1:c.656A>G, XM_005270429.3:c.656A>G, XM_005270429.2:c.656A>G, XM_005270429.1:c.656A>G, XM_006710331.3:c.575A>G, XM_006710331.2:c.575A>G, XM_006710331.1:c.575A>G, XM_017000234.3:c.656A>G, XM_017000234.2:c.656A>G, XM_017000234.1:c.656A>G, XM_017000236.3:c.656A>G, XM_017000236.2:c.656A>G, XM_017000236.1:c.656A>G, XM_011540612.3:c.656A>G, XM_011540612.2:c.656A>G, XM_011540612.1:c.656A>G, XM_017000235.3:c.656A>G, XM_017000235.2:c.656A>G, XM_017000235.1:c.656A>G, XM_005270428.3:c.656A>G, XM_005270428.2:c.656A>G, XM_005270428.1:c.656A>G, NM_001166417.2:c.656A>G, NM_001166417.1:c.656A>G, NM_001166295.2:c.575A>G, NM_001166295.1:c.575A>G, XM_024453015.2:c.656A>G, XM_024453015.1:c.656A>G, NM_001166293.2:c.656A>G, NM_001166293.1:c.656A>G, NM_001166294.2:c.575A>G, NM_001166294.1:c.575A>G, XM_047444197.1:c.656A>G, XM_047444228.1:c.656A>G, XM_047444261.1:c.656A>G, XM_047444216.1:c.656A>G, XM_047444202.1:c.656A>G, XM_047444250.1:c.575A>G, XM_047444257.1:c.656A>G, XM_047444265.1:c.656A>G, XM_047444208.1:c.656A>G, XM_047444231.1:c.656A>G, XM_047444234.1:c.656A>G, XM_047444248.1:c.575A>G, XM_047444276.1:c.575A>G, XM_047444256.1:c.656A>G, XM_047444263.1:c.656A>G, XM_047444259.1:c.656A>G, XM_047444254.1:c.656A>G, XM_047444262.1:c.656A>G, XM_047444269.1:c.656A>G, XM_047444252.1:c.656A>G, XM_047444275.1:c.575A>G, XM_047444251.1:c.656A>G, NP_054740.3:p.Lys219Arg, XP_005270484.1:p.Lys219Arg, XP_005270486.1:p.Lys219Arg, XP_006710394.1:p.Lys192Arg, XP_016855723.1:p.Lys219Arg, XP_016855725.1:p.Lys219Arg, XP_011538914.1:p.Lys219Arg, XP_016855724.1:p.Lys219Arg, XP_005270485.1:p.Lys219Arg, NP_001159889.1:p.Lys219Arg, NP_001159767.1:p.Lys192Arg, XP_024308783.1:p.Lys219Arg, NP_001159765.1:p.Lys219Arg, NP_001159766.1:p.Lys192Arg, XP_047300153.1:p.Lys219Arg, XP_047300184.1:p.Lys219Arg, XP_047300217.1:p.Lys219Arg, XP_047300172.1:p.Lys219Arg, XP_047300158.1:p.Lys219Arg, XP_047300206.1:p.Lys192Arg, XP_047300213.1:p.Lys219Arg, XP_047300221.1:p.Lys219Arg, XP_047300164.1:p.Lys219Arg, XP_047300187.1:p.Lys219Arg, XP_047300190.1:p.Lys219Arg, XP_047300204.1:p.Lys192Arg, XP_047300232.1:p.Lys192Arg, XP_047300212.1:p.Lys219Arg, XP_047300219.1:p.Lys219Arg, XP_047300215.1:p.Lys219Arg, XP_047300210.1:p.Lys219Arg, XP_047300218.1:p.Lys219Arg, XP_047300225.1:p.Lys219Arg, XP_047300208.1:p.Lys219Arg, XP_047300231.1:p.Lys192Arg, XP_047300207.1:p.Lys219Arg

                  9.

                  rs1474490748 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:84655999 (GRCh38)
                    1:85121682 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:84655998:G:A
                    Gene:
                    SSX2IP (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.84655999G>A, NC_000001.10:g.85121682G>A, NM_014021.4:c.1222C>T, NM_014021.3:c.1222C>T, XM_005270427.3:c.1222C>T, XM_005270427.2:c.1222C>T, XM_005270427.1:c.1222C>T, XM_005270429.3:c.1219C>T, XM_005270429.2:c.1219C>T, XM_005270429.1:c.1219C>T, XM_006710331.3:c.1141C>T, XM_006710331.2:c.1141C>T, XM_006710331.1:c.1141C>T, XM_017000234.3:c.1222C>T, XM_017000234.2:c.1222C>T, XM_017000234.1:c.1222C>T, XM_017000236.3:c.1219C>T, XM_017000236.2:c.1219C>T, XM_017000236.1:c.1219C>T, XM_011540612.3:c.1222C>T, XM_011540612.2:c.1222C>T, XM_011540612.1:c.1222C>T, XM_017000235.3:c.1219C>T, XM_017000235.2:c.1219C>T, XM_017000235.1:c.1219C>T, XM_005270428.3:c.1222C>T, XM_005270428.2:c.1222C>T, XM_005270428.1:c.1222C>T, NM_001166417.2:c.1222C>T, NM_001166417.1:c.1222C>T, NM_001166295.2:c.1141C>T, NM_001166295.1:c.1141C>T, XM_024453015.2:c.1219C>T, XM_024453015.1:c.1219C>T, NM_001166293.2:c.1222C>T, NM_001166293.1:c.1222C>T, NM_001166294.2:c.1141C>T, NM_001166294.1:c.1141C>T, XM_047444197.1:c.1222C>T, XM_047444228.1:c.1219C>T, XM_047444261.1:c.1222C>T, XM_047444216.1:c.1222C>T, XM_047444202.1:c.1222C>T, XM_047444250.1:c.1138C>T, XM_047444257.1:c.1222C>T, XM_047444265.1:c.1219C>T, XM_047444208.1:c.1222C>T, XM_047444231.1:c.1219C>T, XM_047444234.1:c.1219C>T, XM_047444248.1:c.1141C>T, XM_047444276.1:c.1138C>T, XM_047444256.1:c.1222C>T, XM_047444263.1:c.1219C>T, XM_047444259.1:c.1222C>T, XM_047444254.1:c.1222C>T, XM_047444262.1:c.1219C>T, XM_047444269.1:c.1219C>T, XM_047444252.1:c.1219C>T, XM_047444275.1:c.1141C>T, XM_047444251.1:c.1222C>T, NP_054740.3:p.Leu408Phe, XP_005270484.1:p.Leu408Phe, XP_005270486.1:p.Leu407Phe, XP_006710394.1:p.Leu381Phe, XP_016855723.1:p.Leu408Phe, XP_016855725.1:p.Leu407Phe, XP_011538914.1:p.Leu408Phe, XP_016855724.1:p.Leu407Phe, XP_005270485.1:p.Leu408Phe, NP_001159889.1:p.Leu408Phe, NP_001159767.1:p.Leu381Phe, XP_024308783.1:p.Leu407Phe, NP_001159765.1:p.Leu408Phe, NP_001159766.1:p.Leu381Phe, XP_047300153.1:p.Leu408Phe, XP_047300184.1:p.Leu407Phe, XP_047300217.1:p.Leu408Phe, XP_047300172.1:p.Leu408Phe, XP_047300158.1:p.Leu408Phe, XP_047300206.1:p.Leu380Phe, XP_047300213.1:p.Leu408Phe, XP_047300221.1:p.Leu407Phe, XP_047300164.1:p.Leu408Phe, XP_047300187.1:p.Leu407Phe, XP_047300190.1:p.Leu407Phe, XP_047300204.1:p.Leu381Phe, XP_047300232.1:p.Leu380Phe, XP_047300212.1:p.Leu408Phe, XP_047300219.1:p.Leu407Phe, XP_047300215.1:p.Leu408Phe, XP_047300210.1:p.Leu408Phe, XP_047300218.1:p.Leu407Phe, XP_047300225.1:p.Leu407Phe, XP_047300208.1:p.Leu407Phe, XP_047300231.1:p.Leu381Phe, XP_047300207.1:p.Leu408Phe

                    10.

                    rs1473899249 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:84647525 (GRCh38)
                      1:85113208 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:84647524:C:T
                      Gene:
                      SSX2IP (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                      HGVS:
                      NC_000001.11:g.84647525C>T, NC_000001.10:g.85113208C>T, NM_014021.4:c.1753G>A, NM_014021.3:c.1753G>A, XM_005270427.3:c.1753G>A, XM_005270427.2:c.1753G>A, XM_005270427.1:c.1753G>A, XM_005270429.3:c.1750G>A, XM_005270429.2:c.1750G>A, XM_005270429.1:c.1750G>A, XM_006710331.3:c.1672G>A, XM_006710331.2:c.1672G>A, XM_006710331.1:c.1672G>A, XM_017000234.3:c.1753G>A, XM_017000234.2:c.1753G>A, XM_017000234.1:c.1753G>A, XM_017000236.3:c.1750G>A, XM_017000236.2:c.1750G>A, XM_017000236.1:c.1750G>A, XM_011540612.3:c.*66G>A, XM_011540612.2:c.*66G>A, XM_011540612.1:c.*66G>A, XM_017000235.3:c.1750G>A, XM_017000235.2:c.1750G>A, XM_017000235.1:c.1750G>A, XM_005270428.3:c.1753G>A, XM_005270428.2:c.1753G>A, XM_005270428.1:c.1753G>A, NM_001166417.2:c.1753G>A, NM_001166417.1:c.1753G>A, NM_001166295.2:c.1672G>A, NM_001166295.1:c.1672G>A, XM_024453015.2:c.1750G>A, XM_024453015.1:c.1750G>A, NM_001166293.2:c.1753G>A, NM_001166293.1:c.1753G>A, NM_001166294.2:c.1672G>A, NM_001166294.1:c.1672G>A, XM_047444197.1:c.1753G>A, XM_047444228.1:c.1750G>A, XM_047444261.1:c.*66G>A, XM_047444216.1:c.1753G>A, XM_047444202.1:c.1753G>A, XM_047444250.1:c.1669G>A, XM_047444257.1:c.*66G>A, XM_047444265.1:c.*66G>A, XM_047444208.1:c.1753G>A, XM_047444231.1:c.1750G>A, XM_047444234.1:c.1750G>A, XM_047444248.1:c.1672G>A, XM_047444276.1:c.*66G>A, XM_047444256.1:c.*66G>A, XM_047444263.1:c.*66G>A, XM_047444259.1:c.*66G>A, XM_047444254.1:c.*66G>A, XM_047444262.1:c.*66G>A, XM_047444269.1:c.*66G>A, NP_054740.3:p.Val585Met, XP_005270484.1:p.Val585Met, XP_005270486.1:p.Val584Met, XP_006710394.1:p.Val558Met, XP_016855723.1:p.Val585Met, XP_016855725.1:p.Val584Met, XP_016855724.1:p.Val584Met, XP_005270485.1:p.Val585Met, NP_001159889.1:p.Val585Met, NP_001159767.1:p.Val558Met, XP_024308783.1:p.Val584Met, NP_001159765.1:p.Val585Met, NP_001159766.1:p.Val558Met, XP_047300153.1:p.Val585Met, XP_047300184.1:p.Val584Met, XP_047300172.1:p.Val585Met, XP_047300158.1:p.Val585Met, XP_047300206.1:p.Val557Met, XP_047300164.1:p.Val585Met, XP_047300187.1:p.Val584Met, XP_047300190.1:p.Val584Met, XP_047300204.1:p.Val558Met

                      11.

                      rs1472175105 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:84658321 (GRCh38)
                        1:85124004 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:84658320:G:C
                        Gene:
                        SSX2IP (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.84658321G>C, NC_000001.10:g.85124004G>C, NM_014021.4:c.1075C>G, NM_014021.3:c.1075C>G, XM_005270427.3:c.1075C>G, XM_005270427.2:c.1075C>G, XM_005270427.1:c.1075C>G, XM_005270429.3:c.1075C>G, XM_005270429.2:c.1075C>G, XM_005270429.1:c.1075C>G, XM_006710331.3:c.994C>G, XM_006710331.2:c.994C>G, XM_006710331.1:c.994C>G, XM_017000234.3:c.1075C>G, XM_017000234.2:c.1075C>G, XM_017000234.1:c.1075C>G, XM_017000236.3:c.1075C>G, XM_017000236.2:c.1075C>G, XM_017000236.1:c.1075C>G, XM_011540612.3:c.1075C>G, XM_011540612.2:c.1075C>G, XM_011540612.1:c.1075C>G, XM_017000235.3:c.1075C>G, XM_017000235.2:c.1075C>G, XM_017000235.1:c.1075C>G, XM_005270428.3:c.1075C>G, XM_005270428.2:c.1075C>G, XM_005270428.1:c.1075C>G, NM_001166417.2:c.1075C>G, NM_001166417.1:c.1075C>G, NM_001166295.2:c.994C>G, NM_001166295.1:c.994C>G, XM_024453015.2:c.1075C>G, XM_024453015.1:c.1075C>G, NM_001166293.2:c.1075C>G, NM_001166293.1:c.1075C>G, NM_001166294.2:c.994C>G, NM_001166294.1:c.994C>G, XM_047444197.1:c.1075C>G, XM_047444228.1:c.1075C>G, XM_047444261.1:c.1075C>G, XM_047444216.1:c.1075C>G, XM_047444202.1:c.1075C>G, XM_047444250.1:c.994C>G, XM_047444257.1:c.1075C>G, XM_047444265.1:c.1075C>G, XM_047444208.1:c.1075C>G, XM_047444231.1:c.1075C>G, XM_047444234.1:c.1075C>G, XM_047444248.1:c.994C>G, XM_047444276.1:c.994C>G, XM_047444256.1:c.1075C>G, XM_047444263.1:c.1075C>G, XM_047444259.1:c.1075C>G, XM_047444254.1:c.1075C>G, XM_047444262.1:c.1075C>G, XM_047444269.1:c.1075C>G, XM_047444252.1:c.1075C>G, XM_047444275.1:c.994C>G, XM_047444251.1:c.1075C>G, NP_054740.3:p.Gln359Glu, XP_005270484.1:p.Gln359Glu, XP_005270486.1:p.Gln359Glu, XP_006710394.1:p.Gln332Glu, XP_016855723.1:p.Gln359Glu, XP_016855725.1:p.Gln359Glu, XP_011538914.1:p.Gln359Glu, XP_016855724.1:p.Gln359Glu, XP_005270485.1:p.Gln359Glu, NP_001159889.1:p.Gln359Glu, NP_001159767.1:p.Gln332Glu, XP_024308783.1:p.Gln359Glu, NP_001159765.1:p.Gln359Glu, NP_001159766.1:p.Gln332Glu, XP_047300153.1:p.Gln359Glu, XP_047300184.1:p.Gln359Glu, XP_047300217.1:p.Gln359Glu, XP_047300172.1:p.Gln359Glu, XP_047300158.1:p.Gln359Glu, XP_047300206.1:p.Gln332Glu, XP_047300213.1:p.Gln359Glu, XP_047300221.1:p.Gln359Glu, XP_047300164.1:p.Gln359Glu, XP_047300187.1:p.Gln359Glu, XP_047300190.1:p.Gln359Glu, XP_047300204.1:p.Gln332Glu, XP_047300232.1:p.Gln332Glu, XP_047300212.1:p.Gln359Glu, XP_047300219.1:p.Gln359Glu, XP_047300215.1:p.Gln359Glu, XP_047300210.1:p.Gln359Glu, XP_047300218.1:p.Gln359Glu, XP_047300225.1:p.Gln359Glu, XP_047300208.1:p.Gln359Glu, XP_047300231.1:p.Gln332Glu, XP_047300207.1:p.Gln359Glu

                        12.

                        rs1471306878 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          1:84670769 (GRCh38)
                          1:85136452 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:84670768:T:A,NC_000001.11:84670768:T:C
                          Gene:
                          SSX2IP (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.84670769T>A, NC_000001.11:g.84670769T>C, NC_000001.10:g.85136452T>A, NC_000001.10:g.85136452T>C, NM_014021.4:c.90A>T, NM_014021.4:c.90A>G, NM_014021.3:c.90A>T, NM_014021.3:c.90A>G, XM_005270427.3:c.90A>T, XM_005270427.3:c.90A>G, XM_005270427.2:c.90A>T, XM_005270427.2:c.90A>G, XM_005270427.1:c.90A>T, XM_005270427.1:c.90A>G, XM_005270429.3:c.90A>T, XM_005270429.3:c.90A>G, XM_005270429.2:c.90A>T, XM_005270429.2:c.90A>G, XM_005270429.1:c.90A>T, XM_005270429.1:c.90A>G, XM_006710331.3:c.9A>T, XM_006710331.3:c.9A>G, XM_006710331.2:c.9A>T, XM_006710331.2:c.9A>G, XM_006710331.1:c.9A>T, XM_006710331.1:c.9A>G, XM_017000234.3:c.90A>T, XM_017000234.3:c.90A>G, XM_017000234.2:c.90A>T, XM_017000234.2:c.90A>G, XM_017000234.1:c.90A>T, XM_017000234.1:c.90A>G, XM_017000236.3:c.90A>T, XM_017000236.3:c.90A>G, XM_017000236.2:c.90A>T, XM_017000236.2:c.90A>G, XM_017000236.1:c.90A>T, XM_017000236.1:c.90A>G, XM_011540612.3:c.90A>T, XM_011540612.3:c.90A>G, XM_011540612.2:c.90A>T, XM_011540612.2:c.90A>G, XM_011540612.1:c.90A>T, XM_011540612.1:c.90A>G, XM_017000235.3:c.90A>T, XM_017000235.3:c.90A>G, XM_017000235.2:c.90A>T, XM_017000235.2:c.90A>G, XM_017000235.1:c.90A>T, XM_017000235.1:c.90A>G, XM_005270428.3:c.90A>T, XM_005270428.3:c.90A>G, XM_005270428.2:c.90A>T, XM_005270428.2:c.90A>G, XM_005270428.1:c.90A>T, XM_005270428.1:c.90A>G, NM_001166417.2:c.90A>T, NM_001166417.2:c.90A>G, NM_001166417.1:c.90A>T, NM_001166417.1:c.90A>G, NM_001166295.2:c.9A>T, NM_001166295.2:c.9A>G, NM_001166295.1:c.9A>T, NM_001166295.1:c.9A>G, XM_024453015.2:c.90A>T, XM_024453015.2:c.90A>G, XM_024453015.1:c.90A>T, XM_024453015.1:c.90A>G, NM_001166293.2:c.90A>T, NM_001166293.2:c.90A>G, NM_001166293.1:c.90A>T, NM_001166293.1:c.90A>G, NM_001166294.2:c.9A>T, NM_001166294.2:c.9A>G, NM_001166294.1:c.9A>T, NM_001166294.1:c.9A>G, XM_047444197.1:c.90A>T, XM_047444197.1:c.90A>G, XM_047444228.1:c.90A>T, XM_047444228.1:c.90A>G, XM_047444261.1:c.90A>T, XM_047444261.1:c.90A>G, XM_047444216.1:c.90A>T, XM_047444216.1:c.90A>G, XM_047444202.1:c.90A>T, XM_047444202.1:c.90A>G, XM_047444250.1:c.9A>T, XM_047444250.1:c.9A>G, XM_047444257.1:c.90A>T, XM_047444257.1:c.90A>G, XM_047444265.1:c.90A>T, XM_047444265.1:c.90A>G, XM_047444208.1:c.90A>T, XM_047444208.1:c.90A>G, XM_047444231.1:c.90A>T, XM_047444231.1:c.90A>G, XM_047444234.1:c.90A>T, XM_047444234.1:c.90A>G, XM_047444248.1:c.9A>T, XM_047444248.1:c.9A>G, XM_047444276.1:c.9A>T, XM_047444276.1:c.9A>G, XM_047444256.1:c.90A>T, XM_047444256.1:c.90A>G, XM_047444263.1:c.90A>T, XM_047444263.1:c.90A>G, XM_047444259.1:c.90A>T, XM_047444259.1:c.90A>G, XM_047444254.1:c.90A>T, XM_047444254.1:c.90A>G, XM_047444262.1:c.90A>T, XM_047444262.1:c.90A>G, XM_047444269.1:c.90A>T, XM_047444269.1:c.90A>G, XM_047444252.1:c.90A>T, XM_047444252.1:c.90A>G, XM_047444275.1:c.9A>T, XM_047444275.1:c.9A>G, XM_047444251.1:c.90A>T, XM_047444251.1:c.90A>G

                          13.

                          rs1469504557 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:84662237 (GRCh38)
                            1:85127920 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:84662236:C:T
                            Gene:
                            SSX2IP (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            HGVS:
                            NC_000001.11:g.84662237C>T, NC_000001.10:g.85127920C>T, NM_014021.4:c.888G>A, NM_014021.3:c.888G>A, XM_005270427.3:c.888G>A, XM_005270427.2:c.888G>A, XM_005270427.1:c.888G>A, XM_005270429.3:c.888G>A, XM_005270429.2:c.888G>A, XM_005270429.1:c.888G>A, XM_006710331.3:c.807G>A, XM_006710331.2:c.807G>A, XM_006710331.1:c.807G>A, XM_017000234.3:c.888G>A, XM_017000234.2:c.888G>A, XM_017000234.1:c.888G>A, XM_017000236.3:c.888G>A, XM_017000236.2:c.888G>A, XM_017000236.1:c.888G>A, XM_011540612.3:c.888G>A, XM_011540612.2:c.888G>A, XM_011540612.1:c.888G>A, XM_017000235.3:c.888G>A, XM_017000235.2:c.888G>A, XM_017000235.1:c.888G>A, XM_005270428.3:c.888G>A, XM_005270428.2:c.888G>A, XM_005270428.1:c.888G>A, NM_001166417.2:c.888G>A, NM_001166417.1:c.888G>A, NM_001166295.2:c.807G>A, NM_001166295.1:c.807G>A, XM_024453015.2:c.888G>A, XM_024453015.1:c.888G>A, NM_001166293.2:c.888G>A, NM_001166293.1:c.888G>A, NM_001166294.2:c.807G>A, NM_001166294.1:c.807G>A, XM_047444197.1:c.888G>A, XM_047444228.1:c.888G>A, XM_047444261.1:c.888G>A, XM_047444216.1:c.888G>A, XM_047444202.1:c.888G>A, XM_047444250.1:c.807G>A, XM_047444257.1:c.888G>A, XM_047444265.1:c.888G>A, XM_047444208.1:c.888G>A, XM_047444231.1:c.888G>A, XM_047444234.1:c.888G>A, XM_047444248.1:c.807G>A, XM_047444276.1:c.807G>A, XM_047444256.1:c.888G>A, XM_047444263.1:c.888G>A, XM_047444259.1:c.888G>A, XM_047444254.1:c.888G>A, XM_047444262.1:c.888G>A, XM_047444269.1:c.888G>A, XM_047444252.1:c.888G>A, XM_047444275.1:c.807G>A, XM_047444251.1:c.888G>A

                            14.

                            rs1468993661 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:84664426 (GRCh38)
                              1:85130109 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:84664425:T:C
                              Gene:
                              SSX2IP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000005/1 (GnomAD_exomes)
                              C=0.000007/1 (GnomAD)
                              C=0.000019/5 (TOPMED)
                              HGVS:
                              NC_000001.11:g.84664426T>C, NC_000001.10:g.85130109T>C, NM_014021.4:c.664A>G, NM_014021.3:c.664A>G, XM_005270427.3:c.664A>G, XM_005270427.2:c.664A>G, XM_005270427.1:c.664A>G, XM_005270429.3:c.664A>G, XM_005270429.2:c.664A>G, XM_005270429.1:c.664A>G, XM_006710331.3:c.583A>G, XM_006710331.2:c.583A>G, XM_006710331.1:c.583A>G, XM_017000234.3:c.664A>G, XM_017000234.2:c.664A>G, XM_017000234.1:c.664A>G, XM_017000236.3:c.664A>G, XM_017000236.2:c.664A>G, XM_017000236.1:c.664A>G, XM_011540612.3:c.664A>G, XM_011540612.2:c.664A>G, XM_011540612.1:c.664A>G, XM_017000235.3:c.664A>G, XM_017000235.2:c.664A>G, XM_017000235.1:c.664A>G, XM_005270428.3:c.664A>G, XM_005270428.2:c.664A>G, XM_005270428.1:c.664A>G, NM_001166417.2:c.664A>G, NM_001166417.1:c.664A>G, NM_001166295.2:c.583A>G, NM_001166295.1:c.583A>G, XM_024453015.2:c.664A>G, XM_024453015.1:c.664A>G, NM_001166293.2:c.664A>G, NM_001166293.1:c.664A>G, NM_001166294.2:c.583A>G, NM_001166294.1:c.583A>G, XM_047444197.1:c.664A>G, XM_047444228.1:c.664A>G, XM_047444261.1:c.664A>G, XM_047444216.1:c.664A>G, XM_047444202.1:c.664A>G, XM_047444250.1:c.583A>G, XM_047444257.1:c.664A>G, XM_047444265.1:c.664A>G, XM_047444208.1:c.664A>G, XM_047444231.1:c.664A>G, XM_047444234.1:c.664A>G, XM_047444248.1:c.583A>G, XM_047444276.1:c.583A>G, XM_047444256.1:c.664A>G, XM_047444263.1:c.664A>G, XM_047444259.1:c.664A>G, XM_047444254.1:c.664A>G, XM_047444262.1:c.664A>G, XM_047444269.1:c.664A>G, XM_047444252.1:c.664A>G, XM_047444275.1:c.583A>G, XM_047444251.1:c.664A>G, NP_054740.3:p.Lys222Glu, XP_005270484.1:p.Lys222Glu, XP_005270486.1:p.Lys222Glu, XP_006710394.1:p.Lys195Glu, XP_016855723.1:p.Lys222Glu, XP_016855725.1:p.Lys222Glu, XP_011538914.1:p.Lys222Glu, XP_016855724.1:p.Lys222Glu, XP_005270485.1:p.Lys222Glu, NP_001159889.1:p.Lys222Glu, NP_001159767.1:p.Lys195Glu, XP_024308783.1:p.Lys222Glu, NP_001159765.1:p.Lys222Glu, NP_001159766.1:p.Lys195Glu, XP_047300153.1:p.Lys222Glu, XP_047300184.1:p.Lys222Glu, XP_047300217.1:p.Lys222Glu, XP_047300172.1:p.Lys222Glu, XP_047300158.1:p.Lys222Glu, XP_047300206.1:p.Lys195Glu, XP_047300213.1:p.Lys222Glu, XP_047300221.1:p.Lys222Glu, XP_047300164.1:p.Lys222Glu, XP_047300187.1:p.Lys222Glu, XP_047300190.1:p.Lys222Glu, XP_047300204.1:p.Lys195Glu, XP_047300232.1:p.Lys195Glu, XP_047300212.1:p.Lys222Glu, XP_047300219.1:p.Lys222Glu, XP_047300215.1:p.Lys222Glu, XP_047300210.1:p.Lys222Glu, XP_047300218.1:p.Lys222Glu, XP_047300225.1:p.Lys222Glu, XP_047300208.1:p.Lys222Glu, XP_047300231.1:p.Lys195Glu, XP_047300207.1:p.Lys222Glu

                              15.

                              rs1468954642 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:84656419 (GRCh38)
                                1:85122102 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:84656418:C:G
                                Gene:
                                SSX2IP (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.84656419C>G, NC_000001.10:g.85122102C>G, NM_014021.4:c.1144G>C, NM_014021.3:c.1144G>C, XM_005270427.3:c.1144G>C, XM_005270427.2:c.1144G>C, XM_005270427.1:c.1144G>C, XM_005270429.3:c.1144G>C, XM_005270429.2:c.1144G>C, XM_005270429.1:c.1144G>C, XM_006710331.3:c.1063G>C, XM_006710331.2:c.1063G>C, XM_006710331.1:c.1063G>C, XM_017000234.3:c.1144G>C, XM_017000234.2:c.1144G>C, XM_017000234.1:c.1144G>C, XM_017000236.3:c.1144G>C, XM_017000236.2:c.1144G>C, XM_017000236.1:c.1144G>C, XM_011540612.3:c.1144G>C, XM_011540612.2:c.1144G>C, XM_011540612.1:c.1144G>C, XM_017000235.3:c.1144G>C, XM_017000235.2:c.1144G>C, XM_017000235.1:c.1144G>C, XM_005270428.3:c.1144G>C, XM_005270428.2:c.1144G>C, XM_005270428.1:c.1144G>C, NM_001166417.2:c.1144G>C, NM_001166417.1:c.1144G>C, NM_001166295.2:c.1063G>C, NM_001166295.1:c.1063G>C, XM_024453015.2:c.1144G>C, XM_024453015.1:c.1144G>C, NM_001166293.2:c.1144G>C, NM_001166293.1:c.1144G>C, NM_001166294.2:c.1063G>C, NM_001166294.1:c.1063G>C, XM_047444197.1:c.1144G>C, XM_047444228.1:c.1144G>C, XM_047444261.1:c.1144G>C, XM_047444216.1:c.1144G>C, XM_047444202.1:c.1144G>C, XM_047444250.1:c.1063G>C, XM_047444257.1:c.1144G>C, XM_047444265.1:c.1144G>C, XM_047444208.1:c.1144G>C, XM_047444231.1:c.1144G>C, XM_047444234.1:c.1144G>C, XM_047444248.1:c.1063G>C, XM_047444276.1:c.1063G>C, XM_047444256.1:c.1144G>C, XM_047444263.1:c.1144G>C, XM_047444259.1:c.1144G>C, XM_047444254.1:c.1144G>C, XM_047444262.1:c.1144G>C, XM_047444269.1:c.1144G>C, XM_047444252.1:c.1144G>C, XM_047444275.1:c.1063G>C, XM_047444251.1:c.1144G>C, NP_054740.3:p.Glu382Gln, XP_005270484.1:p.Glu382Gln, XP_005270486.1:p.Glu382Gln, XP_006710394.1:p.Glu355Gln, XP_016855723.1:p.Glu382Gln, XP_016855725.1:p.Glu382Gln, XP_011538914.1:p.Glu382Gln, XP_016855724.1:p.Glu382Gln, XP_005270485.1:p.Glu382Gln, NP_001159889.1:p.Glu382Gln, NP_001159767.1:p.Glu355Gln, XP_024308783.1:p.Glu382Gln, NP_001159765.1:p.Glu382Gln, NP_001159766.1:p.Glu355Gln, XP_047300153.1:p.Glu382Gln, XP_047300184.1:p.Glu382Gln, XP_047300217.1:p.Glu382Gln, XP_047300172.1:p.Glu382Gln, XP_047300158.1:p.Glu382Gln, XP_047300206.1:p.Glu355Gln, XP_047300213.1:p.Glu382Gln, XP_047300221.1:p.Glu382Gln, XP_047300164.1:p.Glu382Gln, XP_047300187.1:p.Glu382Gln, XP_047300190.1:p.Glu382Gln, XP_047300204.1:p.Glu355Gln, XP_047300232.1:p.Glu355Gln, XP_047300212.1:p.Glu382Gln, XP_047300219.1:p.Glu382Gln, XP_047300215.1:p.Glu382Gln, XP_047300210.1:p.Glu382Gln, XP_047300218.1:p.Glu382Gln, XP_047300225.1:p.Glu382Gln, XP_047300208.1:p.Glu382Gln, XP_047300231.1:p.Glu355Gln, XP_047300207.1:p.Glu382Gln

                                16.

                                rs1468074872 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  1:84651900 (GRCh38)
                                  1:85117583 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:84651899:AAAA:AAA
                                  Gene:
                                  SSX2IP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,frameshift_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.84651903del, NC_000001.10:g.85117586del, NM_014021.4:c.1487del, NM_014021.3:c.1487del, XM_005270427.3:c.1487del, XM_005270427.2:c.1487del, XM_005270427.1:c.1487del, XM_005270429.3:c.1484del, XM_005270429.2:c.1484del, XM_005270429.1:c.1484del, XM_006710331.3:c.1406del, XM_006710331.2:c.1406del, XM_006710331.1:c.1406del, XM_017000234.3:c.1487del, XM_017000234.2:c.1487del, XM_017000234.1:c.1487del, XM_017000236.3:c.1484del, XM_017000236.2:c.1484del, XM_017000236.1:c.1484del, XM_011540612.3:c.1487del, XM_011540612.2:c.1487del, XM_011540612.1:c.1487del, XM_017000235.3:c.1484del, XM_017000235.2:c.1484del, XM_017000235.1:c.1484del, XM_005270428.3:c.1487del, XM_005270428.2:c.1487del, XM_005270428.1:c.1487del, NM_001166417.2:c.1487del, NM_001166417.1:c.1487del, NM_001166295.2:c.1406del, NM_001166295.1:c.1406del, XM_024453015.2:c.1484del, XM_024453015.1:c.1484del, NM_001166293.2:c.1487del, NM_001166293.1:c.1487del, NM_001166294.2:c.1406del, NM_001166294.1:c.1406del, XM_047444197.1:c.1487del, XM_047444228.1:c.1484del, XM_047444261.1:c.1487del, XM_047444216.1:c.1487del, XM_047444202.1:c.1487del, XM_047444250.1:c.1403del, XM_047444257.1:c.1487del, XM_047444265.1:c.1484del, XM_047444208.1:c.1487del, XM_047444231.1:c.1484del, XM_047444234.1:c.1484del, XM_047444248.1:c.1406del, XM_047444276.1:c.1403del, XM_047444256.1:c.1487del, XM_047444263.1:c.1484del, XM_047444259.1:c.1487del, XM_047444254.1:c.1487del, XM_047444262.1:c.1484del, XM_047444269.1:c.1484del, XM_047444252.1:c.*84del, XM_047444251.1:c.*84del, NP_054740.3:p.Phe496fs, XP_005270484.1:p.Phe496fs, XP_005270486.1:p.Phe495fs, XP_006710394.1:p.Phe469fs, XP_016855723.1:p.Phe496fs, XP_016855725.1:p.Phe495fs, XP_011538914.1:p.Phe496fs, XP_016855724.1:p.Phe495fs, XP_005270485.1:p.Phe496fs, NP_001159889.1:p.Phe496fs, NP_001159767.1:p.Phe469fs, XP_024308783.1:p.Phe495fs, NP_001159765.1:p.Phe496fs, NP_001159766.1:p.Phe469fs, XP_047300153.1:p.Phe496fs, XP_047300184.1:p.Phe495fs, XP_047300217.1:p.Phe496fs, XP_047300172.1:p.Phe496fs, XP_047300158.1:p.Phe496fs, XP_047300206.1:p.Phe468fs, XP_047300213.1:p.Phe496fs, XP_047300221.1:p.Phe495fs, XP_047300164.1:p.Phe496fs, XP_047300187.1:p.Phe495fs, XP_047300190.1:p.Phe495fs, XP_047300204.1:p.Phe469fs, XP_047300232.1:p.Phe468fs, XP_047300212.1:p.Phe496fs, XP_047300219.1:p.Phe495fs, XP_047300215.1:p.Phe496fs, XP_047300210.1:p.Phe496fs, XP_047300218.1:p.Phe495fs, XP_047300225.1:p.Phe495fs

                                  17.

                                  rs1465601807 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:84655892 (GRCh38)
                                    1:85121575 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:84655891:T:C
                                    Gene:
                                    SSX2IP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000425/7 (TOMMO)
                                    HGVS:
                                    NC_000001.11:g.84655892T>C, NC_000001.10:g.85121575T>C, NM_014021.4:c.1329A>G, NM_014021.3:c.1329A>G, XM_005270427.3:c.1329A>G, XM_005270427.2:c.1329A>G, XM_005270427.1:c.1329A>G, XM_005270429.3:c.1326A>G, XM_005270429.2:c.1326A>G, XM_005270429.1:c.1326A>G, XM_006710331.3:c.1248A>G, XM_006710331.2:c.1248A>G, XM_006710331.1:c.1248A>G, XM_017000234.3:c.1329A>G, XM_017000234.2:c.1329A>G, XM_017000234.1:c.1329A>G, XM_017000236.3:c.1326A>G, XM_017000236.2:c.1326A>G, XM_017000236.1:c.1326A>G, XM_011540612.3:c.1329A>G, XM_011540612.2:c.1329A>G, XM_011540612.1:c.1329A>G, XM_017000235.3:c.1326A>G, XM_017000235.2:c.1326A>G, XM_017000235.1:c.1326A>G, XM_005270428.3:c.1329A>G, XM_005270428.2:c.1329A>G, XM_005270428.1:c.1329A>G, NM_001166417.2:c.1329A>G, NM_001166417.1:c.1329A>G, NM_001166295.2:c.1248A>G, NM_001166295.1:c.1248A>G, XM_024453015.2:c.1326A>G, XM_024453015.1:c.1326A>G, NM_001166293.2:c.1329A>G, NM_001166293.1:c.1329A>G, NM_001166294.2:c.1248A>G, NM_001166294.1:c.1248A>G, XM_047444197.1:c.1329A>G, XM_047444228.1:c.1326A>G, XM_047444261.1:c.1329A>G, XM_047444216.1:c.1329A>G, XM_047444202.1:c.1329A>G, XM_047444250.1:c.1245A>G, XM_047444257.1:c.1329A>G, XM_047444265.1:c.1326A>G, XM_047444208.1:c.1329A>G, XM_047444231.1:c.1326A>G, XM_047444234.1:c.1326A>G, XM_047444248.1:c.1248A>G, XM_047444276.1:c.1245A>G, XM_047444256.1:c.1329A>G, XM_047444263.1:c.1326A>G, XM_047444259.1:c.1329A>G, XM_047444254.1:c.1329A>G, XM_047444262.1:c.1326A>G, XM_047444269.1:c.1326A>G, XM_047444252.1:c.1326A>G, XM_047444275.1:c.1248A>G, XM_047444251.1:c.1329A>G

                                    18.

                                    rs1461556256 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:84664458 (GRCh38)
                                      1:85130141 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:84664457:C:T
                                      Gene:
                                      SSX2IP (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000001.11:g.84664458C>T, NC_000001.10:g.85130141C>T, NM_014021.4:c.632G>A, NM_014021.3:c.632G>A, XM_005270427.3:c.632G>A, XM_005270427.2:c.632G>A, XM_005270427.1:c.632G>A, XM_005270429.3:c.632G>A, XM_005270429.2:c.632G>A, XM_005270429.1:c.632G>A, XM_006710331.3:c.551G>A, XM_006710331.2:c.551G>A, XM_006710331.1:c.551G>A, XM_017000234.3:c.632G>A, XM_017000234.2:c.632G>A, XM_017000234.1:c.632G>A, XM_017000236.3:c.632G>A, XM_017000236.2:c.632G>A, XM_017000236.1:c.632G>A, XM_011540612.3:c.632G>A, XM_011540612.2:c.632G>A, XM_011540612.1:c.632G>A, XM_017000235.3:c.632G>A, XM_017000235.2:c.632G>A, XM_017000235.1:c.632G>A, XM_005270428.3:c.632G>A, XM_005270428.2:c.632G>A, XM_005270428.1:c.632G>A, NM_001166417.2:c.632G>A, NM_001166417.1:c.632G>A, NM_001166295.2:c.551G>A, NM_001166295.1:c.551G>A, XM_024453015.2:c.632G>A, XM_024453015.1:c.632G>A, NM_001166293.2:c.632G>A, NM_001166293.1:c.632G>A, NM_001166294.2:c.551G>A, NM_001166294.1:c.551G>A, XM_047444197.1:c.632G>A, XM_047444228.1:c.632G>A, XM_047444261.1:c.632G>A, XM_047444216.1:c.632G>A, XM_047444202.1:c.632G>A, XM_047444250.1:c.551G>A, XM_047444257.1:c.632G>A, XM_047444265.1:c.632G>A, XM_047444208.1:c.632G>A, XM_047444231.1:c.632G>A, XM_047444234.1:c.632G>A, XM_047444248.1:c.551G>A, XM_047444276.1:c.551G>A, XM_047444256.1:c.632G>A, XM_047444263.1:c.632G>A, XM_047444259.1:c.632G>A, XM_047444254.1:c.632G>A, XM_047444262.1:c.632G>A, XM_047444269.1:c.632G>A, XM_047444252.1:c.632G>A, XM_047444275.1:c.551G>A, XM_047444251.1:c.632G>A, NP_054740.3:p.Arg211His, XP_005270484.1:p.Arg211His, XP_005270486.1:p.Arg211His, XP_006710394.1:p.Arg184His, XP_016855723.1:p.Arg211His, XP_016855725.1:p.Arg211His, XP_011538914.1:p.Arg211His, XP_016855724.1:p.Arg211His, XP_005270485.1:p.Arg211His, NP_001159889.1:p.Arg211His, NP_001159767.1:p.Arg184His, XP_024308783.1:p.Arg211His, NP_001159765.1:p.Arg211His, NP_001159766.1:p.Arg184His, XP_047300153.1:p.Arg211His, XP_047300184.1:p.Arg211His, XP_047300217.1:p.Arg211His, XP_047300172.1:p.Arg211His, XP_047300158.1:p.Arg211His, XP_047300206.1:p.Arg184His, XP_047300213.1:p.Arg211His, XP_047300221.1:p.Arg211His, XP_047300164.1:p.Arg211His, XP_047300187.1:p.Arg211His, XP_047300190.1:p.Arg211His, XP_047300204.1:p.Arg184His, XP_047300232.1:p.Arg184His, XP_047300212.1:p.Arg211His, XP_047300219.1:p.Arg211His, XP_047300215.1:p.Arg211His, XP_047300210.1:p.Arg211His, XP_047300218.1:p.Arg211His, XP_047300225.1:p.Arg211His, XP_047300208.1:p.Arg211His, XP_047300231.1:p.Arg184His, XP_047300207.1:p.Arg211His

                                      19.

                                      rs1460460534 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:84662333 (GRCh38)
                                        1:85128016 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:84662332:T:C
                                        Gene:
                                        SSX2IP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.84662333T>C, NC_000001.10:g.85128016T>C, NM_014021.4:c.792A>G, NM_014021.3:c.792A>G, XM_005270427.3:c.792A>G, XM_005270427.2:c.792A>G, XM_005270427.1:c.792A>G, XM_005270429.3:c.792A>G, XM_005270429.2:c.792A>G, XM_005270429.1:c.792A>G, XM_006710331.3:c.711A>G, XM_006710331.2:c.711A>G, XM_006710331.1:c.711A>G, XM_017000234.3:c.792A>G, XM_017000234.2:c.792A>G, XM_017000234.1:c.792A>G, XM_017000236.3:c.792A>G, XM_017000236.2:c.792A>G, XM_017000236.1:c.792A>G, XM_011540612.3:c.792A>G, XM_011540612.2:c.792A>G, XM_011540612.1:c.792A>G, XM_017000235.3:c.792A>G, XM_017000235.2:c.792A>G, XM_017000235.1:c.792A>G, XM_005270428.3:c.792A>G, XM_005270428.2:c.792A>G, XM_005270428.1:c.792A>G, NM_001166417.2:c.792A>G, NM_001166417.1:c.792A>G, NM_001166295.2:c.711A>G, NM_001166295.1:c.711A>G, XM_024453015.2:c.792A>G, XM_024453015.1:c.792A>G, NM_001166293.2:c.792A>G, NM_001166293.1:c.792A>G, NM_001166294.2:c.711A>G, NM_001166294.1:c.711A>G, XM_047444197.1:c.792A>G, XM_047444228.1:c.792A>G, XM_047444261.1:c.792A>G, XM_047444216.1:c.792A>G, XM_047444202.1:c.792A>G, XM_047444250.1:c.711A>G, XM_047444257.1:c.792A>G, XM_047444265.1:c.792A>G, XM_047444208.1:c.792A>G, XM_047444231.1:c.792A>G, XM_047444234.1:c.792A>G, XM_047444248.1:c.711A>G, XM_047444276.1:c.711A>G, XM_047444256.1:c.792A>G, XM_047444263.1:c.792A>G, XM_047444259.1:c.792A>G, XM_047444254.1:c.792A>G, XM_047444262.1:c.792A>G, XM_047444269.1:c.792A>G, XM_047444252.1:c.792A>G, XM_047444275.1:c.711A>G, XM_047444251.1:c.792A>G

                                        20.

                                        rs1460434551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:84650462 (GRCh38)
                                          1:85116145 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:84650461:T:C
                                          Gene:
                                          SSX2IP (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000283/5 (TOMMO)
                                          HGVS:
                                          NC_000001.11:g.84650462T>C, NC_000001.10:g.85116145T>C, NM_014021.4:c.1570A>G, NM_014021.3:c.1570A>G, XM_005270427.3:c.1570A>G, XM_005270427.2:c.1570A>G, XM_005270427.1:c.1570A>G, XM_005270429.3:c.1567A>G, XM_005270429.2:c.1567A>G, XM_005270429.1:c.1567A>G, XM_006710331.3:c.1489A>G, XM_006710331.2:c.1489A>G, XM_006710331.1:c.1489A>G, XM_017000234.3:c.1570A>G, XM_017000234.2:c.1570A>G, XM_017000234.1:c.1570A>G, XM_017000236.3:c.1567A>G, XM_017000236.2:c.1567A>G, XM_017000236.1:c.1567A>G, XM_017000235.3:c.1567A>G, XM_017000235.2:c.1567A>G, XM_017000235.1:c.1567A>G, XM_005270428.3:c.1570A>G, XM_005270428.2:c.1570A>G, XM_005270428.1:c.1570A>G, NM_001166417.2:c.1570A>G, NM_001166417.1:c.1570A>G, NM_001166295.2:c.1489A>G, NM_001166295.1:c.1489A>G, XM_024453015.2:c.1567A>G, XM_024453015.1:c.1567A>G, NM_001166293.2:c.1570A>G, NM_001166293.1:c.1570A>G, NM_001166294.2:c.1489A>G, NM_001166294.1:c.1489A>G, XM_047444197.1:c.1570A>G, XM_047444228.1:c.1567A>G, XM_047444216.1:c.1570A>G, XM_047444202.1:c.1570A>G, XM_047444250.1:c.1486A>G, XM_047444208.1:c.1570A>G, XM_047444231.1:c.1567A>G, XM_047444234.1:c.1567A>G, XM_047444248.1:c.1489A>G, NP_054740.3:p.Asn524Asp, XP_005270484.1:p.Asn524Asp, XP_005270486.1:p.Asn523Asp, XP_006710394.1:p.Asn497Asp, XP_016855723.1:p.Asn524Asp, XP_016855725.1:p.Asn523Asp, XP_016855724.1:p.Asn523Asp, XP_005270485.1:p.Asn524Asp, NP_001159889.1:p.Asn524Asp, NP_001159767.1:p.Asn497Asp, XP_024308783.1:p.Asn523Asp, NP_001159765.1:p.Asn524Asp, NP_001159766.1:p.Asn497Asp, XP_047300153.1:p.Asn524Asp, XP_047300184.1:p.Asn523Asp, XP_047300172.1:p.Asn524Asp, XP_047300158.1:p.Asn524Asp, XP_047300206.1:p.Asn496Asp, XP_047300164.1:p.Asn524Asp, XP_047300187.1:p.Asn523Asp, XP_047300190.1:p.Asn523Asp, XP_047300204.1:p.Asn497Asp

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