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Items: 1 to 20 of 559

1.

rs1490398538 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    22:29286960 (GRCh38)
    22:29682949 (GRCh37)
    Canonical SPDI:
    NC_000022.11:29286959:A:G,NC_000022.11:29286959:A:T
    Gene:
    EWSR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    G=0.000035/1 (TOMMO)
    HGVS:
    NC_000022.11:g.29286960A>G, NC_000022.11:g.29286960A>T, NC_000022.10:g.29682949A>G, NC_000022.10:g.29682949A>T, NG_023240.1:g.23952A>G, NG_023240.1:g.23952A>T, NM_013986.4:c.637A>G, NM_013986.4:c.637A>T, NM_013986.3:c.637A>G, NM_013986.3:c.637A>T, NM_005243.4:c.619A>G, NM_005243.4:c.619A>T, NM_005243.3:c.619A>G, NM_005243.3:c.619A>T, NM_001163285.2:c.619A>G, NM_001163285.2:c.619A>T, NM_001163285.1:c.619A>G, NM_001163285.1:c.619A>T, NM_001163286.2:c.451A>G, NM_001163286.2:c.451A>T, NM_001163286.1:c.451A>G, NM_001163286.1:c.451A>T, NM_001163287.2:c.619A>G, NM_001163287.2:c.619A>T, NM_001163287.1:c.619A>G, NM_001163287.1:c.619A>T, XM_005261389.5:c.619A>G, XM_005261389.5:c.619A>T, XM_005261389.4:c.619A>G, XM_005261389.4:c.619A>T, XM_005261389.3:c.619A>G, XM_005261389.3:c.619A>T, XM_005261389.2:c.619A>G, XM_005261389.2:c.619A>T, XM_005261389.1:c.619A>G, XM_005261389.1:c.619A>T, XM_005261390.5:c.451A>G, XM_005261390.5:c.451A>T, XM_005261390.4:c.451A>G, XM_005261390.4:c.451A>T, XM_005261390.3:c.451A>G, XM_005261390.3:c.451A>T, XM_005261390.2:c.451A>G, XM_005261390.2:c.451A>T, XM_005261390.1:c.451A>G, XM_005261390.1:c.451A>T, XM_011529995.4:c.622A>G, XM_011529995.4:c.622A>T, XM_011529995.3:c.622A>G, XM_011529995.3:c.622A>T, XM_011529995.2:c.622A>G, XM_011529995.2:c.622A>T, XM_011529995.1:c.622A>G, XM_011529995.1:c.622A>T, XM_011529996.4:c.622A>G, XM_011529996.4:c.622A>T, XM_011529996.3:c.622A>G, XM_011529996.3:c.622A>T, XM_011529996.2:c.622A>G, XM_011529996.2:c.622A>T, XM_011529996.1:c.622A>G, XM_011529996.1:c.622A>T, XM_011529999.4:c.622A>G, XM_011529999.4:c.622A>T, XM_011529999.3:c.622A>G, XM_011529999.3:c.622A>T, XM_011529999.2:c.622A>G, XM_011529999.2:c.622A>T, XM_011529999.1:c.622A>G, XM_011529999.1:c.622A>T, XM_011530002.4:c.622A>G, XM_011530002.4:c.622A>T, XM_011530002.3:c.622A>G, XM_011530002.3:c.622A>T, XM_011530002.2:c.622A>G, XM_011530002.2:c.622A>T, XM_011530002.1:c.622A>G, XM_011530002.1:c.622A>T, XM_017028644.3:c.619A>G, XM_017028644.3:c.619A>T, XM_017028644.2:c.619A>G, XM_017028644.2:c.619A>T, XM_017028644.1:c.619A>G, XM_017028644.1:c.619A>T, XM_011529997.3:c.622A>G, XM_011529997.3:c.622A>T, XM_011529997.2:c.622A>G, XM_011529997.2:c.622A>T, XM_011529997.1:c.622A>G, XM_011529997.1:c.622A>T, XM_011529998.3:c.622A>G, XM_011529998.3:c.622A>T, XM_011529998.2:c.622A>G, XM_011529998.2:c.622A>T, XM_011529998.1:c.622A>G, XM_011529998.1:c.622A>T, XM_017028646.3:c.622A>G, XM_017028646.3:c.622A>T, XM_017028646.2:c.622A>G, XM_017028646.2:c.622A>T, XM_017028646.1:c.622A>G, XM_017028646.1:c.622A>T, XM_017028645.3:c.619A>G, XM_017028645.3:c.619A>T, XM_017028645.2:c.619A>G, XM_017028645.2:c.619A>T, XM_017028645.1:c.619A>G, XM_017028645.1:c.619A>T, XM_017028647.3:c.619A>G, XM_017028647.3:c.619A>T, XM_017028647.2:c.619A>G, XM_017028647.2:c.619A>T, XM_017028647.1:c.619A>G, XM_017028647.1:c.619A>T, XM_011530000.3:c.622A>G, XM_011530000.3:c.622A>T, XM_011530000.2:c.622A>G, XM_011530000.2:c.622A>T, XM_011530000.1:c.622A>G, XM_011530000.1:c.622A>T, XM_017028648.3:c.619A>G, XM_017028648.3:c.619A>T, XM_017028648.2:c.619A>G, XM_017028648.2:c.619A>T, XM_017028648.1:c.619A>G, XM_017028648.1:c.619A>T, XM_017028649.3:c.622A>G, XM_017028649.3:c.622A>T, XM_017028649.2:c.622A>G, XM_017028649.2:c.622A>T, XM_017028649.1:c.622A>G, XM_017028649.1:c.622A>T, XM_017028650.3:c.622A>G, XM_017028650.3:c.622A>T, XM_017028650.2:c.622A>G, XM_017028650.2:c.622A>T, XM_017028650.1:c.622A>G, XM_017028650.1:c.622A>T, XM_017028652.3:c.622A>G, XM_017028652.3:c.622A>T, XM_017028652.2:c.622A>G, XM_017028652.2:c.622A>T, XM_017028652.1:c.622A>G, XM_017028652.1:c.622A>T, XM_017028651.3:c.619A>G, XM_017028651.3:c.619A>T, XM_017028651.2:c.619A>G, XM_017028651.2:c.619A>T, XM_017028651.1:c.619A>G, XM_017028651.1:c.619A>T, XM_017028653.3:c.619A>G, XM_017028653.3:c.619A>T, XM_017028653.2:c.619A>G, XM_017028653.2:c.619A>T, XM_017028653.1:c.619A>G, XM_017028653.1:c.619A>T, XM_011530001.3:c.454A>G, XM_011530001.3:c.454A>T, XM_011530001.2:c.454A>G, XM_011530001.2:c.454A>T, XM_011530001.1:c.454A>G, XM_011530001.1:c.454A>T, XM_017028656.3:c.619A>G, XM_017028656.3:c.619A>T, XM_017028656.2:c.619A>G, XM_017028656.2:c.619A>T, XM_017028656.1:c.619A>G, XM_017028656.1:c.619A>T, XM_017028660.3:c.619A>G, XM_017028660.3:c.619A>T, XM_017028660.2:c.619A>G, XM_017028660.2:c.619A>T, XM_017028660.1:c.619A>G, XM_017028660.1:c.619A>T, XM_017028662.3:c.451A>G, XM_017028662.3:c.451A>T, XM_017028662.2:c.451A>G, XM_017028662.2:c.451A>T, XM_017028662.1:c.451A>G, XM_017028662.1:c.451A>T, XM_017028654.2:c.454A>G, XM_017028654.2:c.454A>T, XM_017028654.1:c.454A>G, XM_017028654.1:c.454A>T, XM_017028655.2:c.451A>G, XM_017028655.2:c.451A>T, XM_017028655.1:c.451A>G, XM_017028655.1:c.451A>T, XM_017028658.2:c.454A>G, XM_017028658.2:c.454A>T, XM_017028658.1:c.454A>G, XM_017028658.1:c.454A>T, XM_017028659.2:c.451A>G, XM_017028659.2:c.451A>T, XM_017028659.1:c.451A>G, XM_017028659.1:c.451A>T, XM_024452180.2:c.622A>G, XM_024452180.2:c.622A>T, XM_024452180.1:c.622A>G, XM_024452180.1:c.622A>T, XM_024452181.2:c.619A>G, XM_024452181.2:c.619A>T, XM_024452181.1:c.619A>G, XM_024452181.1:c.619A>T, XM_017028663.2:c.451A>G, XM_017028663.2:c.451A>T, XM_017028663.1:c.451A>G, XM_017028663.1:c.451A>T, XM_047441187.1:c.622A>G, XM_047441187.1:c.622A>T, XM_047441186.1:c.619A>G, XM_047441186.1:c.619A>T, XM_047441188.1:c.619A>G, XM_047441188.1:c.619A>T, XM_047441189.1:c.619A>G, XM_047441189.1:c.619A>T, XM_047441190.1:c.622A>G, XM_047441190.1:c.622A>T, XM_047441191.1:c.454A>G, XM_047441191.1:c.454A>T, XM_047441192.1:c.622A>G, XM_047441192.1:c.622A>T, XM_047441194.1:c.451A>G, XM_047441194.1:c.451A>T, XM_047441193.1:c.619A>G, XM_047441193.1:c.619A>T, XM_047441195.1:c.622A>G, XM_047441195.1:c.622A>T, XM_047441197.1:c.451A>G, XM_047441197.1:c.451A>T, XM_047441196.1:c.619A>G, XM_047441196.1:c.619A>T, XM_047441198.1:c.619A>G, XM_047441198.1:c.619A>T, XM_047441199.1:c.622A>G, XM_047441199.1:c.622A>T, XM_047441200.1:c.619A>G, XM_047441200.1:c.619A>T, XM_047441201.1:c.451A>G, XM_047441201.1:c.451A>T, XM_047441202.1:c.619A>G, XM_047441202.1:c.619A>T, NP_053733.2:p.Ser213Gly, NP_053733.2:p.Ser213Cys, NP_005234.1:p.Ser207Gly, NP_005234.1:p.Ser207Cys, NP_001156757.1:p.Ser207Gly, NP_001156757.1:p.Ser207Cys, NP_001156758.1:p.Ser151Gly, NP_001156758.1:p.Ser151Cys, NP_001156759.1:p.Ser207Gly, NP_001156759.1:p.Ser207Cys, XP_005261446.1:p.Ser207Gly, XP_005261446.1:p.Ser207Cys, XP_005261447.1:p.Ser151Gly, XP_005261447.1:p.Ser151Cys, XP_011528297.1:p.Ser208Gly, XP_011528297.1:p.Ser208Cys, XP_011528298.1:p.Ser208Gly, XP_011528298.1:p.Ser208Cys, XP_011528301.1:p.Ser208Gly, XP_011528301.1:p.Ser208Cys, XP_011528304.1:p.Ser208Gly, XP_011528304.1:p.Ser208Cys, XP_016884133.1:p.Ser207Gly, XP_016884133.1:p.Ser207Cys, XP_011528299.1:p.Ser208Gly, XP_011528299.1:p.Ser208Cys, XP_011528300.1:p.Ser208Gly, XP_011528300.1:p.Ser208Cys, XP_016884135.1:p.Ser208Gly, XP_016884135.1:p.Ser208Cys, XP_016884134.1:p.Ser207Gly, XP_016884134.1:p.Ser207Cys, XP_016884136.1:p.Ser207Gly, XP_016884136.1:p.Ser207Cys, XP_011528302.1:p.Ser208Gly, XP_011528302.1:p.Ser208Cys, XP_016884137.1:p.Ser207Gly, XP_016884137.1:p.Ser207Cys, XP_016884138.1:p.Ser208Gly, XP_016884138.1:p.Ser208Cys, XP_016884139.1:p.Ser208Gly, XP_016884139.1:p.Ser208Cys, XP_016884141.1:p.Ser208Gly, XP_016884141.1:p.Ser208Cys, XP_016884140.1:p.Ser207Gly, XP_016884140.1:p.Ser207Cys, XP_016884142.1:p.Ser207Gly, XP_016884142.1:p.Ser207Cys, XP_011528303.1:p.Ser152Gly, XP_011528303.1:p.Ser152Cys, XP_016884145.1:p.Ser207Gly, XP_016884145.1:p.Ser207Cys, XP_016884149.1:p.Ser207Gly, XP_016884149.1:p.Ser207Cys, XP_016884151.1:p.Ser151Gly, XP_016884151.1:p.Ser151Cys, XP_016884143.1:p.Ser152Gly, XP_016884143.1:p.Ser152Cys, XP_016884144.1:p.Ser151Gly, XP_016884144.1:p.Ser151Cys, XP_016884147.1:p.Ser152Gly, XP_016884147.1:p.Ser152Cys, XP_016884148.1:p.Ser151Gly, XP_016884148.1:p.Ser151Cys, XP_024307948.1:p.Ser208Gly, XP_024307948.1:p.Ser208Cys, XP_024307949.1:p.Ser207Gly, XP_024307949.1:p.Ser207Cys, XP_016884152.1:p.Ser151Gly, XP_016884152.1:p.Ser151Cys, XP_047297143.1:p.Ser208Gly, XP_047297143.1:p.Ser208Cys, XP_047297142.1:p.Ser207Gly, XP_047297142.1:p.Ser207Cys, XP_047297144.1:p.Ser207Gly, XP_047297144.1:p.Ser207Cys, XP_047297145.1:p.Ser207Gly, XP_047297145.1:p.Ser207Cys, XP_047297146.1:p.Ser208Gly, XP_047297146.1:p.Ser208Cys, XP_047297147.1:p.Ser152Gly, XP_047297147.1:p.Ser152Cys, XP_047297148.1:p.Ser208Gly, XP_047297148.1:p.Ser208Cys, XP_047297150.1:p.Ser151Gly, XP_047297150.1:p.Ser151Cys, XP_047297149.1:p.Ser207Gly, XP_047297149.1:p.Ser207Cys, XP_047297151.1:p.Ser208Gly, XP_047297151.1:p.Ser208Cys, XP_047297153.1:p.Ser151Gly, XP_047297153.1:p.Ser151Cys, XP_047297152.1:p.Ser207Gly, XP_047297152.1:p.Ser207Cys, XP_047297154.1:p.Ser207Gly, XP_047297154.1:p.Ser207Cys, XP_047297155.1:p.Ser208Gly, XP_047297155.1:p.Ser208Cys, XP_047297156.1:p.Ser207Gly, XP_047297156.1:p.Ser207Cys, XP_047297157.1:p.Ser151Gly, XP_047297157.1:p.Ser151Cys, XP_047297158.1:p.Ser207Gly, XP_047297158.1:p.Ser207Cys

    2.

    rs1490343728 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:29287043 (GRCh38)
      22:29683032 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29287042:G:A
      Gene:
      EWSR1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000016/4 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.29287043G>A, NC_000022.10:g.29683032G>A, NG_023240.1:g.24035G>A, NM_013986.4:c.720G>A, NM_013986.3:c.720G>A, NM_005243.4:c.702G>A, NM_005243.3:c.702G>A, NM_001163285.2:c.702G>A, NM_001163285.1:c.702G>A, NM_001163286.2:c.534G>A, NM_001163286.1:c.534G>A, NM_001163287.2:c.702G>A, NM_001163287.1:c.702G>A, XM_005261389.5:c.702G>A, XM_005261389.4:c.702G>A, XM_005261389.3:c.702G>A, XM_005261389.2:c.702G>A, XM_005261389.1:c.702G>A, XM_005261390.5:c.534G>A, XM_005261390.4:c.534G>A, XM_005261390.3:c.534G>A, XM_005261390.2:c.534G>A, XM_005261390.1:c.534G>A, XM_011529995.4:c.705G>A, XM_011529995.3:c.705G>A, XM_011529995.2:c.705G>A, XM_011529995.1:c.705G>A, XM_011529996.4:c.705G>A, XM_011529996.3:c.705G>A, XM_011529996.2:c.705G>A, XM_011529996.1:c.705G>A, XM_011529999.4:c.705G>A, XM_011529999.3:c.705G>A, XM_011529999.2:c.705G>A, XM_011529999.1:c.705G>A, XM_011530002.4:c.705G>A, XM_011530002.3:c.705G>A, XM_011530002.2:c.705G>A, XM_011530002.1:c.705G>A, XM_017028644.3:c.702G>A, XM_017028644.2:c.702G>A, XM_017028644.1:c.702G>A, XM_011529997.3:c.705G>A, XM_011529997.2:c.705G>A, XM_011529997.1:c.705G>A, XM_011529998.3:c.705G>A, XM_011529998.2:c.705G>A, XM_011529998.1:c.705G>A, XM_017028646.3:c.705G>A, XM_017028646.2:c.705G>A, XM_017028646.1:c.705G>A, XM_017028645.3:c.702G>A, XM_017028645.2:c.702G>A, XM_017028645.1:c.702G>A, XM_017028647.3:c.702G>A, XM_017028647.2:c.702G>A, XM_017028647.1:c.702G>A, XM_011530000.3:c.705G>A, XM_011530000.2:c.705G>A, XM_011530000.1:c.705G>A, XM_017028648.3:c.702G>A, XM_017028648.2:c.702G>A, XM_017028648.1:c.702G>A, XM_017028649.3:c.705G>A, XM_017028649.2:c.705G>A, XM_017028649.1:c.705G>A, XM_017028650.3:c.705G>A, XM_017028650.2:c.705G>A, XM_017028650.1:c.705G>A, XM_017028652.3:c.705G>A, XM_017028652.2:c.705G>A, XM_017028652.1:c.705G>A, XM_017028651.3:c.702G>A, XM_017028651.2:c.702G>A, XM_017028651.1:c.702G>A, XM_017028653.3:c.702G>A, XM_017028653.2:c.702G>A, XM_017028653.1:c.702G>A, XM_011530001.3:c.537G>A, XM_011530001.2:c.537G>A, XM_011530001.1:c.537G>A, XM_017028656.3:c.702G>A, XM_017028656.2:c.702G>A, XM_017028656.1:c.702G>A, XM_017028660.3:c.702G>A, XM_017028660.2:c.702G>A, XM_017028660.1:c.702G>A, XM_017028662.3:c.534G>A, XM_017028662.2:c.534G>A, XM_017028662.1:c.534G>A, XM_017028654.2:c.537G>A, XM_017028654.1:c.537G>A, XM_017028655.2:c.534G>A, XM_017028655.1:c.534G>A, XM_017028658.2:c.537G>A, XM_017028658.1:c.537G>A, XM_017028659.2:c.534G>A, XM_017028659.1:c.534G>A, XM_024452180.2:c.705G>A, XM_024452180.1:c.705G>A, XM_024452181.2:c.702G>A, XM_024452181.1:c.702G>A, XM_017028663.2:c.534G>A, XM_017028663.1:c.534G>A, XM_047441187.1:c.705G>A, XM_047441186.1:c.702G>A, XM_047441188.1:c.702G>A, XM_047441189.1:c.702G>A, XM_047441190.1:c.705G>A, XM_047441191.1:c.537G>A, XM_047441192.1:c.705G>A, XM_047441194.1:c.534G>A, XM_047441193.1:c.702G>A, XM_047441195.1:c.705G>A, XM_047441197.1:c.534G>A, XM_047441196.1:c.702G>A, XM_047441198.1:c.702G>A, XM_047441199.1:c.705G>A, XM_047441200.1:c.702G>A, XM_047441201.1:c.534G>A, XM_047441202.1:c.702G>A

      3.

      rs1487847945 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AGC [Show Flanks]
        Chromosome:
        22:29287112 (GRCh38)
        22:29683102 (GRCh37)
        Canonical SPDI:
        NC_000022.11:29287112:AGCAGCAGC:AGCAGCAGCAGC
        Gene:
        EWSR1 (Varview)
        Functional Consequence:
        inframe_insertion,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGCAGCAGCAGC=0./0 (ALFA)
        AGC=0.000004/1 (TOPMED)
        AGC=0.000007/1 (GnomAD)
        HGVS:
        NC_000022.11:g.29287113AGC[4], NC_000022.10:g.29683102AGC[4], NG_023240.1:g.24105AGC[4], NM_013986.4:c.790AGC[4], NM_013986.3:c.790AGC[4], NM_005243.4:c.772AGC[4], NM_005243.3:c.772AGC[4], NM_001163285.2:c.772AGC[4], NM_001163285.1:c.772AGC[4], NM_001163286.2:c.604AGC[4], NM_001163286.1:c.604AGC[4], NM_001163287.2:c.772AGC[4], NM_001163287.1:c.772AGC[4], XM_005261389.5:c.772AGC[4], XM_005261389.4:c.772AGC[4], XM_005261389.3:c.772AGC[4], XM_005261389.2:c.772AGC[4], XM_005261389.1:c.772AGC[4], XM_005261390.5:c.604AGC[4], XM_005261390.4:c.604AGC[4], XM_005261390.3:c.604AGC[4], XM_005261390.2:c.604AGC[4], XM_005261390.1:c.604AGC[4], XM_011529995.4:c.775AGC[4], XM_011529995.3:c.775AGC[4], XM_011529995.2:c.775AGC[4], XM_011529995.1:c.775AGC[4], XM_011529996.4:c.775AGC[4], XM_011529996.3:c.775AGC[4], XM_011529996.2:c.775AGC[4], XM_011529996.1:c.775AGC[4], XM_011529999.4:c.775AGC[4], XM_011529999.3:c.775AGC[4], XM_011529999.2:c.775AGC[4], XM_011529999.1:c.775AGC[4], XM_011530002.4:c.775AGC[4], XM_011530002.3:c.775AGC[4], XM_011530002.2:c.775AGC[4], XM_011530002.1:c.775AGC[4], XM_017028644.3:c.772AGC[4], XM_017028644.2:c.772AGC[4], XM_017028644.1:c.772AGC[4], XM_011529997.3:c.775AGC[4], XM_011529997.2:c.775AGC[4], XM_011529997.1:c.775AGC[4], XM_011529998.3:c.775AGC[4], XM_011529998.2:c.775AGC[4], XM_011529998.1:c.775AGC[4], XM_017028646.3:c.775AGC[4], XM_017028646.2:c.775AGC[4], XM_017028646.1:c.775AGC[4], XM_017028645.3:c.772AGC[4], XM_017028645.2:c.772AGC[4], XM_017028645.1:c.772AGC[4], XM_017028647.3:c.772AGC[4], XM_017028647.2:c.772AGC[4], XM_017028647.1:c.772AGC[4], XM_011530000.3:c.775AGC[4], XM_011530000.2:c.775AGC[4], XM_011530000.1:c.775AGC[4], XM_017028648.3:c.772AGC[4], XM_017028648.2:c.772AGC[4], XM_017028648.1:c.772AGC[4], XM_017028649.3:c.775AGC[4], XM_017028649.2:c.775AGC[4], XM_017028649.1:c.775AGC[4], XM_017028650.3:c.775AGC[4], XM_017028650.2:c.775AGC[4], XM_017028650.1:c.775AGC[4], XM_017028652.3:c.775AGC[4], XM_017028652.2:c.775AGC[4], XM_017028652.1:c.775AGC[4], XM_017028651.3:c.772AGC[4], XM_017028651.2:c.772AGC[4], XM_017028651.1:c.772AGC[4], XM_017028653.3:c.772AGC[4], XM_017028653.2:c.772AGC[4], XM_017028653.1:c.772AGC[4], XM_011530001.3:c.607AGC[4], XM_011530001.2:c.607AGC[4], XM_011530001.1:c.607AGC[4], XM_017028656.3:c.772AGC[4], XM_017028656.2:c.772AGC[4], XM_017028656.1:c.772AGC[4], XM_017028660.3:c.772AGC[4], XM_017028660.2:c.772AGC[4], XM_017028660.1:c.772AGC[4], XM_017028662.3:c.604AGC[4], XM_017028662.2:c.604AGC[4], XM_017028662.1:c.604AGC[4], XM_017028654.2:c.607AGC[4], XM_017028654.1:c.607AGC[4], XM_017028655.2:c.604AGC[4], XM_017028655.1:c.604AGC[4], XM_017028658.2:c.607AGC[4], XM_017028658.1:c.607AGC[4], XM_017028659.2:c.604AGC[4], XM_017028659.1:c.604AGC[4], XM_024452180.2:c.775AGC[4], XM_024452180.1:c.775AGC[4], XM_024452181.2:c.772AGC[4], XM_024452181.1:c.772AGC[4], XM_017028663.2:c.604AGC[4], XM_017028663.1:c.604AGC[4], XM_047441187.1:c.775AGC[4], XM_047441186.1:c.772AGC[4], XM_047441188.1:c.772AGC[4], XM_047441189.1:c.772AGC[4], XM_047441190.1:c.775AGC[4], XM_047441191.1:c.607AGC[4], XM_047441192.1:c.775AGC[4], XM_047441194.1:c.604AGC[4], XM_047441193.1:c.772AGC[4], XM_047441195.1:c.775AGC[4], XM_047441197.1:c.604AGC[4], XM_047441196.1:c.772AGC[4], XM_047441198.1:c.772AGC[4], XM_047441199.1:c.775AGC[4], XM_047441200.1:c.772AGC[4], XM_047441201.1:c.604AGC[4], XM_047441202.1:c.772AGC[4], NP_053733.2:p.Ser266dup, NP_005234.1:p.Ser260dup, NP_001156757.1:p.Ser260dup, NP_001156758.1:p.Ser204dup, NP_001156759.1:p.Ser260dup, XP_005261446.1:p.Ser260dup, XP_005261447.1:p.Ser204dup, XP_011528297.1:p.Ser261dup, XP_011528298.1:p.Ser261dup, XP_011528301.1:p.Ser261dup, XP_011528304.1:p.Ser261dup, XP_016884133.1:p.Ser260dup, XP_011528299.1:p.Ser261dup, XP_011528300.1:p.Ser261dup, XP_016884135.1:p.Ser261dup, XP_016884134.1:p.Ser260dup, XP_016884136.1:p.Ser260dup, XP_011528302.1:p.Ser261dup, XP_016884137.1:p.Ser260dup, XP_016884138.1:p.Ser261dup, XP_016884139.1:p.Ser261dup, XP_016884141.1:p.Ser261dup, XP_016884140.1:p.Ser260dup, XP_016884142.1:p.Ser260dup, XP_011528303.1:p.Ser205dup, XP_016884145.1:p.Ser260dup, XP_016884149.1:p.Ser260dup, XP_016884151.1:p.Ser204dup, XP_016884143.1:p.Ser205dup, XP_016884144.1:p.Ser204dup, XP_016884147.1:p.Ser205dup, XP_016884148.1:p.Ser204dup, XP_024307948.1:p.Ser261dup, XP_024307949.1:p.Ser260dup, XP_016884152.1:p.Ser204dup, XP_047297143.1:p.Ser261dup, XP_047297142.1:p.Ser260dup, XP_047297144.1:p.Ser260dup, XP_047297145.1:p.Ser260dup, XP_047297146.1:p.Ser261dup, XP_047297147.1:p.Ser205dup, XP_047297148.1:p.Ser261dup, XP_047297150.1:p.Ser204dup, XP_047297149.1:p.Ser260dup, XP_047297151.1:p.Ser261dup, XP_047297153.1:p.Ser204dup, XP_047297152.1:p.Ser260dup, XP_047297154.1:p.Ser260dup, XP_047297155.1:p.Ser261dup, XP_047297156.1:p.Ser260dup, XP_047297157.1:p.Ser204dup, XP_047297158.1:p.Ser260dup

        4.

        rs1484813797 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:29282477 (GRCh38)
          22:29678466 (GRCh37)
          Canonical SPDI:
          NC_000022.11:29282476:G:A
          Gene:
          EWSR1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          HGVS:
          NC_000022.11:g.29282477G>A, NC_000022.10:g.29678466G>A, NG_023240.1:g.19469G>A, NM_013986.4:c.519G>A, NM_013986.3:c.519G>A, NM_005243.4:c.501G>A, NM_005243.3:c.501G>A, NM_001163285.2:c.501G>A, NM_001163285.1:c.501G>A, NM_001163287.2:c.501G>A, NM_001163287.1:c.501G>A, XM_005261389.5:c.501G>A, XM_005261389.4:c.501G>A, XM_005261389.3:c.501G>A, XM_005261389.2:c.501G>A, XM_005261389.1:c.501G>A, XM_011529995.4:c.504G>A, XM_011529995.3:c.504G>A, XM_011529995.2:c.504G>A, XM_011529995.1:c.504G>A, XM_011529996.4:c.504G>A, XM_011529996.3:c.504G>A, XM_011529996.2:c.504G>A, XM_011529996.1:c.504G>A, XM_011529999.4:c.504G>A, XM_011529999.3:c.504G>A, XM_011529999.2:c.504G>A, XM_011529999.1:c.504G>A, XM_011530002.4:c.504G>A, XM_011530002.3:c.504G>A, XM_011530002.2:c.504G>A, XM_011530002.1:c.504G>A, XM_017028644.3:c.501G>A, XM_017028644.2:c.501G>A, XM_017028644.1:c.501G>A, XM_011529997.3:c.504G>A, XM_011529997.2:c.504G>A, XM_011529997.1:c.504G>A, XM_011529998.3:c.504G>A, XM_011529998.2:c.504G>A, XM_011529998.1:c.504G>A, XM_017028646.3:c.504G>A, XM_017028646.2:c.504G>A, XM_017028646.1:c.504G>A, XM_017028645.3:c.501G>A, XM_017028645.2:c.501G>A, XM_017028645.1:c.501G>A, XM_017028647.3:c.501G>A, XM_017028647.2:c.501G>A, XM_017028647.1:c.501G>A, XM_011530000.3:c.504G>A, XM_011530000.2:c.504G>A, XM_011530000.1:c.504G>A, XM_017028648.3:c.501G>A, XM_017028648.2:c.501G>A, XM_017028648.1:c.501G>A, XM_017028649.3:c.504G>A, XM_017028649.2:c.504G>A, XM_017028649.1:c.504G>A, XM_017028650.3:c.504G>A, XM_017028650.2:c.504G>A, XM_017028650.1:c.504G>A, XM_017028652.3:c.504G>A, XM_017028652.2:c.504G>A, XM_017028652.1:c.504G>A, XM_017028651.3:c.501G>A, XM_017028651.2:c.501G>A, XM_017028651.1:c.501G>A, XM_017028653.3:c.501G>A, XM_017028653.2:c.501G>A, XM_017028653.1:c.501G>A, XM_017028656.3:c.501G>A, XM_017028656.2:c.501G>A, XM_017028656.1:c.501G>A, XM_017028660.3:c.501G>A, XM_017028660.2:c.501G>A, XM_017028660.1:c.501G>A, XM_024452180.2:c.504G>A, XM_024452180.1:c.504G>A, XM_024452181.2:c.501G>A, XM_024452181.1:c.501G>A, XM_047441187.1:c.504G>A, XM_047441186.1:c.501G>A, XM_047441188.1:c.501G>A, XM_047441189.1:c.501G>A, XM_047441190.1:c.504G>A, XM_047441192.1:c.504G>A, XM_047441193.1:c.501G>A, XM_047441195.1:c.504G>A, XM_047441196.1:c.501G>A, XM_047441198.1:c.501G>A, XM_047441199.1:c.504G>A, XM_047441200.1:c.501G>A, XM_047441202.1:c.501G>A

          5.

          rs1484316669 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:29297843 (GRCh38)
            22:29693833 (GRCh37)
            Canonical SPDI:
            NC_000022.11:29297842:G:A
            Gene:
            EWSR1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000022.11:g.29297843G>A, NC_000022.10:g.29693833G>A, NG_023240.1:g.34836G>A, NM_013986.4:c.1326G>A, NM_013986.3:c.1326G>A, NM_005243.4:c.1311G>A, NM_005243.3:c.1311G>A, NM_001163285.2:c.1308G>A, NM_001163285.1:c.1308G>A, NM_001163286.2:c.1143G>A, NM_001163286.1:c.1143G>A, XM_005261389.5:c.1311G>A, XM_005261389.4:c.1311G>A, XM_005261389.3:c.1311G>A, XM_005261389.2:c.1311G>A, XM_005261389.1:c.1311G>A, XM_005261390.5:c.1143G>A, XM_005261390.4:c.1143G>A, XM_005261390.3:c.1143G>A, XM_005261390.2:c.1143G>A, XM_005261390.1:c.1143G>A, XM_011529995.4:c.1314G>A, XM_011529995.3:c.1314G>A, XM_011529995.2:c.1314G>A, XM_011529995.1:c.1314G>A, XM_011529996.4:c.1311G>A, XM_011529996.3:c.1311G>A, XM_011529996.2:c.1311G>A, XM_011529996.1:c.1311G>A, XM_011529999.4:c.1314G>A, XM_011529999.3:c.1314G>A, XM_011529999.2:c.1314G>A, XM_011529999.1:c.1314G>A, XM_011530002.4:c.1095G>A, XM_011530002.3:c.1095G>A, XM_011530002.2:c.1095G>A, XM_011530002.1:c.1095G>A, XM_017028644.3:c.1308G>A, XM_017028644.2:c.1308G>A, XM_017028644.1:c.1308G>A, XM_011529997.3:c.1314G>A, XM_011529997.2:c.1314G>A, XM_011529997.1:c.1314G>A, XM_011529998.3:c.1311G>A, XM_011529998.2:c.1311G>A, XM_011529998.1:c.1311G>A, XM_017028646.3:c.1311G>A, XM_017028646.2:c.1311G>A, XM_017028646.1:c.1311G>A, XM_017028645.3:c.1311G>A, XM_017028645.2:c.1311G>A, XM_017028645.1:c.1311G>A, XM_017028647.3:c.1308G>A, XM_017028647.2:c.1308G>A, XM_017028647.1:c.1308G>A, XM_011530000.3:c.1314G>A, XM_011530000.2:c.1314G>A, XM_011530000.1:c.1314G>A, XM_017028648.3:c.1308G>A, XM_017028648.2:c.1308G>A, XM_017028648.1:c.1308G>A, XM_011530001.3:c.1146G>A, XM_011530001.2:c.1146G>A, XM_011530001.1:c.1146G>A, XM_017028662.3:c.1140G>A, XM_017028662.2:c.1140G>A, XM_017028662.1:c.1140G>A, XM_017028654.2:c.1143G>A, XM_017028654.1:c.1143G>A, XM_017028655.2:c.1140G>A, XM_017028655.1:c.1140G>A, XM_017028658.2:c.1143G>A, XM_017028658.1:c.1143G>A, XM_017028659.2:c.1140G>A, XM_017028659.1:c.1140G>A, XM_024452180.2:c.1095G>A, XM_024452180.1:c.1095G>A, XM_024452181.2:c.1092G>A, XM_024452181.1:c.1092G>A, XM_047441187.1:c.1311G>A, XM_047441186.1:c.1311G>A, XM_047441191.1:c.1146G>A, XM_047441194.1:c.1143G>A, XM_047441193.1:c.1092G>A, XM_047441195.1:c.1095G>A, XM_047441197.1:c.1143G>A, XM_047441196.1:c.1092G>A, XM_047441198.1:c.1092G>A, XM_047441201.1:c.924G>A

            6.

            rs1482860093 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              22:29273812 (GRCh38)
              22:29669801 (GRCh37)
              Canonical SPDI:
              NC_000022.11:29273811:T:G
              Gene:
              EWSR1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000012/3 (GnomAD_exomes)
              G=0.000015/4 (TOPMED)
              HGVS:
              NC_000022.11:g.29273812T>G, NC_000022.10:g.29669801T>G, NG_023240.1:g.10804T>G, NM_013986.4:c.174T>G, NM_013986.3:c.174T>G, NM_005243.4:c.174T>G, NM_005243.3:c.174T>G, NM_001163285.2:c.174T>G, NM_001163285.1:c.174T>G, NM_001163286.2:c.174T>G, NM_001163286.1:c.174T>G, NM_001163287.2:c.174T>G, NM_001163287.1:c.174T>G, XM_005261389.5:c.174T>G, XM_005261389.4:c.174T>G, XM_005261389.3:c.174T>G, XM_005261389.2:c.174T>G, XM_005261389.1:c.174T>G, XM_005261390.5:c.174T>G, XM_005261390.4:c.174T>G, XM_005261390.3:c.174T>G, XM_005261390.2:c.174T>G, XM_005261390.1:c.174T>G, XM_011529995.4:c.177T>G, XM_011529995.3:c.177T>G, XM_011529995.2:c.177T>G, XM_011529995.1:c.177T>G, XM_011529996.4:c.177T>G, XM_011529996.3:c.177T>G, XM_011529996.2:c.177T>G, XM_011529996.1:c.177T>G, XM_011529999.4:c.177T>G, XM_011529999.3:c.177T>G, XM_011529999.2:c.177T>G, XM_011529999.1:c.177T>G, XM_011530002.4:c.177T>G, XM_011530002.3:c.177T>G, XM_011530002.2:c.177T>G, XM_011530002.1:c.177T>G, XM_017028644.3:c.174T>G, XM_017028644.2:c.174T>G, XM_017028644.1:c.174T>G, XM_011529997.3:c.177T>G, XM_011529997.2:c.177T>G, XM_011529997.1:c.177T>G, XM_011529998.3:c.177T>G, XM_011529998.2:c.177T>G, XM_011529998.1:c.177T>G, XM_017028646.3:c.177T>G, XM_017028646.2:c.177T>G, XM_017028646.1:c.177T>G, XM_017028645.3:c.174T>G, XM_017028645.2:c.174T>G, XM_017028645.1:c.174T>G, XM_017028647.3:c.174T>G, XM_017028647.2:c.174T>G, XM_017028647.1:c.174T>G, XM_011530000.3:c.177T>G, XM_011530000.2:c.177T>G, XM_011530000.1:c.177T>G, XM_017028648.3:c.174T>G, XM_017028648.2:c.174T>G, XM_017028648.1:c.174T>G, XM_017028649.3:c.177T>G, XM_017028649.2:c.177T>G, XM_017028649.1:c.177T>G, XM_017028650.3:c.177T>G, XM_017028650.2:c.177T>G, XM_017028650.1:c.177T>G, XM_017028652.3:c.177T>G, XM_017028652.2:c.177T>G, XM_017028652.1:c.177T>G, XM_017028651.3:c.174T>G, XM_017028651.2:c.174T>G, XM_017028651.1:c.174T>G, XM_017028653.3:c.174T>G, XM_017028653.2:c.174T>G, XM_017028653.1:c.174T>G, XM_011530001.3:c.177T>G, XM_011530001.2:c.177T>G, XM_011530001.1:c.177T>G, XM_017028656.3:c.174T>G, XM_017028656.2:c.174T>G, XM_017028656.1:c.174T>G, XM_017028660.3:c.174T>G, XM_017028660.2:c.174T>G, XM_017028660.1:c.174T>G, XM_017028662.3:c.174T>G, XM_017028662.2:c.174T>G, XM_017028662.1:c.174T>G, XM_017028654.2:c.177T>G, XM_017028654.1:c.177T>G, XM_017028655.2:c.174T>G, XM_017028655.1:c.174T>G, XM_017028658.2:c.177T>G, XM_017028658.1:c.177T>G, XM_017028659.2:c.174T>G, XM_017028659.1:c.174T>G, XM_024452180.2:c.177T>G, XM_024452180.1:c.177T>G, XM_024452181.2:c.174T>G, XM_024452181.1:c.174T>G, XM_017028663.2:c.174T>G, XM_017028663.1:c.174T>G, XM_047441187.1:c.177T>G, XM_047441186.1:c.174T>G, XM_047441188.1:c.174T>G, XM_047441189.1:c.174T>G, XM_047441190.1:c.177T>G, XM_047441191.1:c.177T>G, XM_047441192.1:c.177T>G, XM_047441194.1:c.174T>G, XM_047441193.1:c.174T>G, XM_047441195.1:c.177T>G, XM_047441197.1:c.174T>G, XM_047441196.1:c.174T>G, XM_047441198.1:c.174T>G, XM_047441199.1:c.177T>G, XM_047441200.1:c.174T>G, XM_047441201.1:c.174T>G, XM_047441202.1:c.174T>G

              7.

              rs1482709318 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                22:29296280 (GRCh38)
                22:29692270 (GRCh37)
                Canonical SPDI:
                NC_000022.11:29296279:G:A,NC_000022.11:29296279:G:T
                Gene:
                EWSR1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.0001/1 (ALFA)
                HGVS:
                NC_000022.11:g.29296280G>A, NC_000022.11:g.29296280G>T, NC_000022.10:g.29692270G>A, NC_000022.10:g.29692270G>T, NG_023240.1:g.33273G>A, NG_023240.1:g.33273G>T, NM_013986.4:c.1221G>A, NM_013986.4:c.1221G>T, NM_013986.3:c.1221G>A, NM_013986.3:c.1221G>T, NM_005243.4:c.1206G>A, NM_005243.4:c.1206G>T, NM_005243.3:c.1206G>A, NM_005243.3:c.1206G>T, NM_001163285.2:c.1203G>A, NM_001163285.2:c.1203G>T, NM_001163285.1:c.1203G>A, NM_001163285.1:c.1203G>T, NM_001163286.2:c.1038G>A, NM_001163286.2:c.1038G>T, NM_001163286.1:c.1038G>A, NM_001163286.1:c.1038G>T, XM_005261389.5:c.1206G>A, XM_005261389.5:c.1206G>T, XM_005261389.4:c.1206G>A, XM_005261389.4:c.1206G>T, XM_005261389.3:c.1206G>A, XM_005261389.3:c.1206G>T, XM_005261389.2:c.1206G>A, XM_005261389.2:c.1206G>T, XM_005261389.1:c.1206G>A, XM_005261389.1:c.1206G>T, XM_005261390.5:c.1038G>A, XM_005261390.5:c.1038G>T, XM_005261390.4:c.1038G>A, XM_005261390.4:c.1038G>T, XM_005261390.3:c.1038G>A, XM_005261390.3:c.1038G>T, XM_005261390.2:c.1038G>A, XM_005261390.2:c.1038G>T, XM_005261390.1:c.1038G>A, XM_005261390.1:c.1038G>T, XM_011529995.4:c.1209G>A, XM_011529995.4:c.1209G>T, XM_011529995.3:c.1209G>A, XM_011529995.3:c.1209G>T, XM_011529995.2:c.1209G>A, XM_011529995.2:c.1209G>T, XM_011529995.1:c.1209G>A, XM_011529995.1:c.1209G>T, XM_011529996.4:c.1206G>A, XM_011529996.4:c.1206G>T, XM_011529996.3:c.1206G>A, XM_011529996.3:c.1206G>T, XM_011529996.2:c.1206G>A, XM_011529996.2:c.1206G>T, XM_011529996.1:c.1206G>A, XM_011529996.1:c.1206G>T, XM_011529999.4:c.1209G>A, XM_011529999.4:c.1209G>T, XM_011529999.3:c.1209G>A, XM_011529999.3:c.1209G>T, XM_011529999.2:c.1209G>A, XM_011529999.2:c.1209G>T, XM_011529999.1:c.1209G>A, XM_011529999.1:c.1209G>T, XM_011530002.4:c.990G>A, XM_011530002.4:c.990G>T, XM_011530002.3:c.990G>A, XM_011530002.3:c.990G>T, XM_011530002.2:c.990G>A, XM_011530002.2:c.990G>T, XM_011530002.1:c.990G>A, XM_011530002.1:c.990G>T, XM_017028644.3:c.1203G>A, XM_017028644.3:c.1203G>T, XM_017028644.2:c.1203G>A, XM_017028644.2:c.1203G>T, XM_017028644.1:c.1203G>A, XM_017028644.1:c.1203G>T, XM_011529997.3:c.1209G>A, XM_011529997.3:c.1209G>T, XM_011529997.2:c.1209G>A, XM_011529997.2:c.1209G>T, XM_011529997.1:c.1209G>A, XM_011529997.1:c.1209G>T, XM_011529998.3:c.1206G>A, XM_011529998.3:c.1206G>T, XM_011529998.2:c.1206G>A, XM_011529998.2:c.1206G>T, XM_011529998.1:c.1206G>A, XM_011529998.1:c.1206G>T, XM_017028646.3:c.1206G>A, XM_017028646.3:c.1206G>T, XM_017028646.2:c.1206G>A, XM_017028646.2:c.1206G>T, XM_017028646.1:c.1206G>A, XM_017028646.1:c.1206G>T, XM_017028645.3:c.1206G>A, XM_017028645.3:c.1206G>T, XM_017028645.2:c.1206G>A, XM_017028645.2:c.1206G>T, XM_017028645.1:c.1206G>A, XM_017028645.1:c.1206G>T, XM_017028647.3:c.1203G>A, XM_017028647.3:c.1203G>T, XM_017028647.2:c.1203G>A, XM_017028647.2:c.1203G>T, XM_017028647.1:c.1203G>A, XM_017028647.1:c.1203G>T, XM_011530000.3:c.1209G>A, XM_011530000.3:c.1209G>T, XM_011530000.2:c.1209G>A, XM_011530000.2:c.1209G>T, XM_011530000.1:c.1209G>A, XM_011530000.1:c.1209G>T, XM_017028648.3:c.1203G>A, XM_017028648.3:c.1203G>T, XM_017028648.2:c.1203G>A, XM_017028648.2:c.1203G>T, XM_017028648.1:c.1203G>A, XM_017028648.1:c.1203G>T, XM_017028649.3:c.1209G>A, XM_017028649.3:c.1209G>T, XM_017028649.2:c.1209G>A, XM_017028649.2:c.1209G>T, XM_017028649.1:c.1209G>A, XM_017028649.1:c.1209G>T, XM_017028650.3:c.1209G>A, XM_017028650.3:c.1209G>T, XM_017028650.2:c.1209G>A, XM_017028650.2:c.1209G>T, XM_017028650.1:c.1209G>A, XM_017028650.1:c.1209G>T, XM_017028652.3:c.1206G>A, XM_017028652.3:c.1206G>T, XM_017028652.2:c.1206G>A, XM_017028652.2:c.1206G>T, XM_017028652.1:c.1206G>A, XM_017028652.1:c.1206G>T, XM_017028651.3:c.1206G>A, XM_017028651.3:c.1206G>T, XM_017028651.2:c.1206G>A, XM_017028651.2:c.1206G>T, XM_017028651.1:c.1206G>A, XM_017028651.1:c.1206G>T, XM_017028653.3:c.1203G>A, XM_017028653.3:c.1203G>T, XM_017028653.2:c.1203G>A, XM_017028653.2:c.1203G>T, XM_017028653.1:c.1203G>A, XM_017028653.1:c.1203G>T, XM_011530001.3:c.1041G>A, XM_011530001.3:c.1041G>T, XM_011530001.2:c.1041G>A, XM_011530001.2:c.1041G>T, XM_011530001.1:c.1041G>A, XM_011530001.1:c.1041G>T, XM_017028656.3:c.1206G>A, XM_017028656.3:c.1206G>T, XM_017028656.2:c.1206G>A, XM_017028656.2:c.1206G>T, XM_017028656.1:c.1206G>A, XM_017028656.1:c.1206G>T, XM_017028660.3:c.1203G>A, XM_017028660.3:c.1203G>T, XM_017028660.2:c.1203G>A, XM_017028660.2:c.1203G>T, XM_017028660.1:c.1203G>A, XM_017028660.1:c.1203G>T, XM_017028662.3:c.1035G>A, XM_017028662.3:c.1035G>T, XM_017028662.2:c.1035G>A, XM_017028662.2:c.1035G>T, XM_017028662.1:c.1035G>A, XM_017028662.1:c.1035G>T, XM_017028654.2:c.1038G>A, XM_017028654.2:c.1038G>T, XM_017028654.1:c.1038G>A, XM_017028654.1:c.1038G>T, XM_017028655.2:c.1035G>A, XM_017028655.2:c.1035G>T, XM_017028655.1:c.1035G>A, XM_017028655.1:c.1035G>T, XM_017028658.2:c.1038G>A, XM_017028658.2:c.1038G>T, XM_017028658.1:c.1038G>A, XM_017028658.1:c.1038G>T, XM_017028659.2:c.1035G>A, XM_017028659.2:c.1035G>T, XM_017028659.1:c.1035G>A, XM_017028659.1:c.1035G>T, XM_024452180.2:c.990G>A, XM_024452180.2:c.990G>T, XM_024452180.1:c.990G>A, XM_024452180.1:c.990G>T, XM_024452181.2:c.987G>A, XM_024452181.2:c.987G>T, XM_024452181.1:c.987G>A, XM_024452181.1:c.987G>T, XM_017028663.2:c.1035G>A, XM_017028663.2:c.1035G>T, XM_017028663.1:c.1035G>A, XM_017028663.1:c.1035G>T, XM_047441187.1:c.1206G>A, XM_047441187.1:c.1206G>T, XM_047441186.1:c.1206G>A, XM_047441186.1:c.1206G>T, XM_047441188.1:c.1206G>A, XM_047441188.1:c.1206G>T, XM_047441189.1:c.1203G>A, XM_047441189.1:c.1203G>T, XM_047441190.1:c.1209G>A, XM_047441190.1:c.1209G>T, XM_047441191.1:c.1041G>A, XM_047441191.1:c.1041G>T, XM_047441192.1:c.1209G>A, XM_047441192.1:c.1209G>T, XM_047441194.1:c.1038G>A, XM_047441194.1:c.1038G>T, XM_047441193.1:c.987G>A, XM_047441193.1:c.987G>T, XM_047441195.1:c.990G>A, XM_047441195.1:c.990G>T, XM_047441197.1:c.1038G>A, XM_047441197.1:c.1038G>T, XM_047441196.1:c.987G>A, XM_047441196.1:c.987G>T, XM_047441198.1:c.987G>A, XM_047441198.1:c.987G>T, XM_047441199.1:c.990G>A, XM_047441199.1:c.990G>T, XM_047441200.1:c.987G>A, XM_047441200.1:c.987G>T, XM_047441201.1:c.819G>A, XM_047441201.1:c.819G>T

                8.

                rs1475936481 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  22:29287050 (GRCh38)
                  22:29683039 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:29287049:C:A
                  Gene:
                  EWSR1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.29287050C>A, NC_000022.10:g.29683039C>A, NG_023240.1:g.24042C>A, NM_013986.4:c.727C>A, NM_013986.3:c.727C>A, NM_005243.4:c.709C>A, NM_005243.3:c.709C>A, NM_001163285.2:c.709C>A, NM_001163285.1:c.709C>A, NM_001163286.2:c.541C>A, NM_001163286.1:c.541C>A, NM_001163287.2:c.709C>A, NM_001163287.1:c.709C>A, XM_005261389.5:c.709C>A, XM_005261389.4:c.709C>A, XM_005261389.3:c.709C>A, XM_005261389.2:c.709C>A, XM_005261389.1:c.709C>A, XM_005261390.5:c.541C>A, XM_005261390.4:c.541C>A, XM_005261390.3:c.541C>A, XM_005261390.2:c.541C>A, XM_005261390.1:c.541C>A, XM_011529995.4:c.712C>A, XM_011529995.3:c.712C>A, XM_011529995.2:c.712C>A, XM_011529995.1:c.712C>A, XM_011529996.4:c.712C>A, XM_011529996.3:c.712C>A, XM_011529996.2:c.712C>A, XM_011529996.1:c.712C>A, XM_011529999.4:c.712C>A, XM_011529999.3:c.712C>A, XM_011529999.2:c.712C>A, XM_011529999.1:c.712C>A, XM_011530002.4:c.712C>A, XM_011530002.3:c.712C>A, XM_011530002.2:c.712C>A, XM_011530002.1:c.712C>A, XM_017028644.3:c.709C>A, XM_017028644.2:c.709C>A, XM_017028644.1:c.709C>A, XM_011529997.3:c.712C>A, XM_011529997.2:c.712C>A, XM_011529997.1:c.712C>A, XM_011529998.3:c.712C>A, XM_011529998.2:c.712C>A, XM_011529998.1:c.712C>A, XM_017028646.3:c.712C>A, XM_017028646.2:c.712C>A, XM_017028646.1:c.712C>A, XM_017028645.3:c.709C>A, XM_017028645.2:c.709C>A, XM_017028645.1:c.709C>A, XM_017028647.3:c.709C>A, XM_017028647.2:c.709C>A, XM_017028647.1:c.709C>A, XM_011530000.3:c.712C>A, XM_011530000.2:c.712C>A, XM_011530000.1:c.712C>A, XM_017028648.3:c.709C>A, XM_017028648.2:c.709C>A, XM_017028648.1:c.709C>A, XM_017028649.3:c.712C>A, XM_017028649.2:c.712C>A, XM_017028649.1:c.712C>A, XM_017028650.3:c.712C>A, XM_017028650.2:c.712C>A, XM_017028650.1:c.712C>A, XM_017028652.3:c.712C>A, XM_017028652.2:c.712C>A, XM_017028652.1:c.712C>A, XM_017028651.3:c.709C>A, XM_017028651.2:c.709C>A, XM_017028651.1:c.709C>A, XM_017028653.3:c.709C>A, XM_017028653.2:c.709C>A, XM_017028653.1:c.709C>A, XM_011530001.3:c.544C>A, XM_011530001.2:c.544C>A, XM_011530001.1:c.544C>A, XM_017028656.3:c.709C>A, XM_017028656.2:c.709C>A, XM_017028656.1:c.709C>A, XM_017028660.3:c.709C>A, XM_017028660.2:c.709C>A, XM_017028660.1:c.709C>A, XM_017028662.3:c.541C>A, XM_017028662.2:c.541C>A, XM_017028662.1:c.541C>A, XM_017028654.2:c.544C>A, XM_017028654.1:c.544C>A, XM_017028655.2:c.541C>A, XM_017028655.1:c.541C>A, XM_017028658.2:c.544C>A, XM_017028658.1:c.544C>A, XM_017028659.2:c.541C>A, XM_017028659.1:c.541C>A, XM_024452180.2:c.712C>A, XM_024452180.1:c.712C>A, XM_024452181.2:c.709C>A, XM_024452181.1:c.709C>A, XM_017028663.2:c.541C>A, XM_017028663.1:c.541C>A, XM_047441187.1:c.712C>A, XM_047441186.1:c.709C>A, XM_047441188.1:c.709C>A, XM_047441189.1:c.709C>A, XM_047441190.1:c.712C>A, XM_047441191.1:c.544C>A, XM_047441192.1:c.712C>A, XM_047441194.1:c.541C>A, XM_047441193.1:c.709C>A, XM_047441195.1:c.712C>A, XM_047441197.1:c.541C>A, XM_047441196.1:c.709C>A, XM_047441198.1:c.709C>A, XM_047441199.1:c.712C>A, XM_047441200.1:c.709C>A, XM_047441201.1:c.541C>A, XM_047441202.1:c.709C>A, NP_053733.2:p.Pro243Thr, NP_005234.1:p.Pro237Thr, NP_001156757.1:p.Pro237Thr, NP_001156758.1:p.Pro181Thr, NP_001156759.1:p.Pro237Thr, XP_005261446.1:p.Pro237Thr, XP_005261447.1:p.Pro181Thr, XP_011528297.1:p.Pro238Thr, XP_011528298.1:p.Pro238Thr, XP_011528301.1:p.Pro238Thr, XP_011528304.1:p.Pro238Thr, XP_016884133.1:p.Pro237Thr, XP_011528299.1:p.Pro238Thr, XP_011528300.1:p.Pro238Thr, XP_016884135.1:p.Pro238Thr, XP_016884134.1:p.Pro237Thr, XP_016884136.1:p.Pro237Thr, XP_011528302.1:p.Pro238Thr, XP_016884137.1:p.Pro237Thr, XP_016884138.1:p.Pro238Thr, XP_016884139.1:p.Pro238Thr, XP_016884141.1:p.Pro238Thr, XP_016884140.1:p.Pro237Thr, XP_016884142.1:p.Pro237Thr, XP_011528303.1:p.Pro182Thr, XP_016884145.1:p.Pro237Thr, XP_016884149.1:p.Pro237Thr, XP_016884151.1:p.Pro181Thr, XP_016884143.1:p.Pro182Thr, XP_016884144.1:p.Pro181Thr, XP_016884147.1:p.Pro182Thr, XP_016884148.1:p.Pro181Thr, XP_024307948.1:p.Pro238Thr, XP_024307949.1:p.Pro237Thr, XP_016884152.1:p.Pro181Thr, XP_047297143.1:p.Pro238Thr, XP_047297142.1:p.Pro237Thr, XP_047297144.1:p.Pro237Thr, XP_047297145.1:p.Pro237Thr, XP_047297146.1:p.Pro238Thr, XP_047297147.1:p.Pro182Thr, XP_047297148.1:p.Pro238Thr, XP_047297150.1:p.Pro181Thr, XP_047297149.1:p.Pro237Thr, XP_047297151.1:p.Pro238Thr, XP_047297153.1:p.Pro181Thr, XP_047297152.1:p.Pro237Thr, XP_047297154.1:p.Pro237Thr, XP_047297155.1:p.Pro238Thr, XP_047297156.1:p.Pro237Thr, XP_047297157.1:p.Pro181Thr, XP_047297158.1:p.Pro237Thr

                  9.

                  rs1474545266 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:29292574 (GRCh38)
                    22:29688563 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:29292573:G:A
                    Gene:
                    EWSR1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000022.11:g.29292574G>A, NC_000022.10:g.29688563G>A, NG_023240.1:g.29566G>A, NM_013986.4:c.1147G>A, NM_013986.3:c.1147G>A, NM_005243.4:c.1132G>A, NM_005243.3:c.1132G>A, NM_001163285.2:c.1129G>A, NM_001163285.1:c.1129G>A, NM_001163286.2:c.964G>A, NM_001163286.1:c.964G>A, XM_005261389.5:c.1132G>A, XM_005261389.4:c.1132G>A, XM_005261389.3:c.1132G>A, XM_005261389.2:c.1132G>A, XM_005261389.1:c.1132G>A, XM_005261390.5:c.964G>A, XM_005261390.4:c.964G>A, XM_005261390.3:c.964G>A, XM_005261390.2:c.964G>A, XM_005261390.1:c.964G>A, XM_011529995.4:c.1135G>A, XM_011529995.3:c.1135G>A, XM_011529995.2:c.1135G>A, XM_011529995.1:c.1135G>A, XM_011529996.4:c.1132G>A, XM_011529996.3:c.1132G>A, XM_011529996.2:c.1132G>A, XM_011529996.1:c.1132G>A, XM_011529999.4:c.1135G>A, XM_011529999.3:c.1135G>A, XM_011529999.2:c.1135G>A, XM_011529999.1:c.1135G>A, XM_011530002.4:c.916G>A, XM_011530002.3:c.916G>A, XM_011530002.2:c.916G>A, XM_011530002.1:c.916G>A, XM_017028644.3:c.1129G>A, XM_017028644.2:c.1129G>A, XM_017028644.1:c.1129G>A, XM_011529997.3:c.1135G>A, XM_011529997.2:c.1135G>A, XM_011529997.1:c.1135G>A, XM_011529998.3:c.1132G>A, XM_011529998.2:c.1132G>A, XM_011529998.1:c.1132G>A, XM_017028646.3:c.1132G>A, XM_017028646.2:c.1132G>A, XM_017028646.1:c.1132G>A, XM_017028645.3:c.1132G>A, XM_017028645.2:c.1132G>A, XM_017028645.1:c.1132G>A, XM_017028647.3:c.1129G>A, XM_017028647.2:c.1129G>A, XM_017028647.1:c.1129G>A, XM_011530000.3:c.1135G>A, XM_011530000.2:c.1135G>A, XM_011530000.1:c.1135G>A, XM_017028648.3:c.1129G>A, XM_017028648.2:c.1129G>A, XM_017028648.1:c.1129G>A, XM_017028649.3:c.1135G>A, XM_017028649.2:c.1135G>A, XM_017028649.1:c.1135G>A, XM_017028650.3:c.1135G>A, XM_017028650.2:c.1135G>A, XM_017028650.1:c.1135G>A, XM_017028652.3:c.1132G>A, XM_017028652.2:c.1132G>A, XM_017028652.1:c.1132G>A, XM_017028651.3:c.1132G>A, XM_017028651.2:c.1132G>A, XM_017028651.1:c.1132G>A, XM_017028653.3:c.1129G>A, XM_017028653.2:c.1129G>A, XM_017028653.1:c.1129G>A, XM_011530001.3:c.967G>A, XM_011530001.2:c.967G>A, XM_011530001.1:c.967G>A, XM_017028656.3:c.1132G>A, XM_017028656.2:c.1132G>A, XM_017028656.1:c.1132G>A, XM_017028660.3:c.1129G>A, XM_017028660.2:c.1129G>A, XM_017028660.1:c.1129G>A, XM_017028662.3:c.961G>A, XM_017028662.2:c.961G>A, XM_017028662.1:c.961G>A, XM_017028654.2:c.964G>A, XM_017028654.1:c.964G>A, XM_017028655.2:c.961G>A, XM_017028655.1:c.961G>A, XM_017028658.2:c.964G>A, XM_017028658.1:c.964G>A, XM_017028659.2:c.961G>A, XM_017028659.1:c.961G>A, XM_024452180.2:c.916G>A, XM_024452180.1:c.916G>A, XM_024452181.2:c.913G>A, XM_024452181.1:c.913G>A, XM_017028663.2:c.961G>A, XM_017028663.1:c.961G>A, XM_047441187.1:c.1132G>A, XM_047441186.1:c.1132G>A, XM_047441188.1:c.1132G>A, XM_047441189.1:c.1129G>A, XM_047441190.1:c.1135G>A, XM_047441191.1:c.967G>A, XM_047441192.1:c.1135G>A, XM_047441194.1:c.964G>A, XM_047441193.1:c.913G>A, XM_047441195.1:c.916G>A, XM_047441197.1:c.964G>A, XM_047441196.1:c.913G>A, XM_047441198.1:c.913G>A, XM_047441199.1:c.916G>A, XM_047441200.1:c.913G>A, XM_047441201.1:c.745G>A, NP_053733.2:p.Ala383Thr, NP_005234.1:p.Ala378Thr, NP_001156757.1:p.Ala377Thr, NP_001156758.1:p.Ala322Thr, XP_005261446.1:p.Ala378Thr, XP_005261447.1:p.Ala322Thr, XP_011528297.1:p.Ala379Thr, XP_011528298.1:p.Ala378Thr, XP_011528301.1:p.Ala379Thr, XP_011528304.1:p.Ala306Thr, XP_016884133.1:p.Ala377Thr, XP_011528299.1:p.Ala379Thr, XP_011528300.1:p.Ala378Thr, XP_016884135.1:p.Ala378Thr, XP_016884134.1:p.Ala378Thr, XP_016884136.1:p.Ala377Thr, XP_011528302.1:p.Ala379Thr, XP_016884137.1:p.Ala377Thr, XP_016884138.1:p.Ala379Thr, XP_016884139.1:p.Ala379Thr, XP_016884141.1:p.Ala378Thr, XP_016884140.1:p.Ala378Thr, XP_016884142.1:p.Ala377Thr, XP_011528303.1:p.Ala323Thr, XP_016884145.1:p.Ala378Thr, XP_016884149.1:p.Ala377Thr, XP_016884151.1:p.Ala321Thr, XP_016884143.1:p.Ala322Thr, XP_016884144.1:p.Ala321Thr, XP_016884147.1:p.Ala322Thr, XP_016884148.1:p.Ala321Thr, XP_024307948.1:p.Ala306Thr, XP_024307949.1:p.Ala305Thr, XP_016884152.1:p.Ala321Thr, XP_047297143.1:p.Ala378Thr, XP_047297142.1:p.Ala378Thr, XP_047297144.1:p.Ala378Thr, XP_047297145.1:p.Ala377Thr, XP_047297146.1:p.Ala379Thr, XP_047297147.1:p.Ala323Thr, XP_047297148.1:p.Ala379Thr, XP_047297150.1:p.Ala322Thr, XP_047297149.1:p.Ala305Thr, XP_047297151.1:p.Ala306Thr, XP_047297153.1:p.Ala322Thr, XP_047297152.1:p.Ala305Thr, XP_047297154.1:p.Ala305Thr, XP_047297155.1:p.Ala306Thr, XP_047297156.1:p.Ala305Thr, XP_047297157.1:p.Ala249Thr

                    10.

                    rs1474105831 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GATCGTGGC [Show Flanks]
                      Chromosome:
                      22:29299603 (GRCh38)
                      22:29695594 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:29299603:GATCGTGGC:GATCGTGGCGATCGTGGC
                      Gene:
                      EWSR1 (Varview)
                      Functional Consequence:
                      inframe_insertion,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GATCGTGGCGATCGTGGC=0./0 (ALFA)
                      GATCGTGGC=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000022.11:g.29299604_29299612dup, NC_000022.10:g.29695594_29695602dup, NG_023240.1:g.36597_36605dup, NM_013986.4:c.1699_1707dup, NM_013986.3:c.1699_1707dup, NM_005243.4:c.1684_1692dup, NM_005243.3:c.1684_1692dup, NM_001163285.2:c.1681_1689dup, NM_001163285.1:c.1681_1689dup, NM_001163286.2:c.1516_1524dup, NM_001163286.1:c.1516_1524dup, XM_005261389.5:c.1723_1731dup, XM_005261389.4:c.1723_1731dup, XM_005261389.3:c.1723_1731dup, XM_005261389.2:c.1723_1731dup, XM_005261389.1:c.1723_1731dup, XM_005261390.5:c.1555_1563dup, XM_005261390.4:c.1555_1563dup, XM_005261390.3:c.1555_1563dup, XM_005261390.2:c.1555_1563dup, XM_005261390.1:c.1555_1563dup, XM_011529995.4:c.1726_1734dup, XM_011529995.3:c.1726_1734dup, XM_011529995.2:c.1726_1734dup, XM_011529995.1:c.1726_1734dup, XM_011529996.4:c.1723_1731dup, XM_011529996.3:c.1723_1731dup, XM_011529996.2:c.1723_1731dup, XM_011529996.1:c.1723_1731dup, XM_011529999.4:c.1675_1683dup, XM_011529999.3:c.1675_1683dup, XM_011529999.2:c.1675_1683dup, XM_011529999.1:c.1675_1683dup, XM_011530002.4:c.1507_1515dup, XM_011530002.3:c.1507_1515dup, XM_011530002.2:c.1507_1515dup, XM_011530002.1:c.1507_1515dup, XM_017028644.3:c.1720_1728dup, XM_017028644.2:c.1720_1728dup, XM_017028644.1:c.1720_1728dup, XM_011529997.3:c.1687_1695dup, XM_011529997.2:c.1687_1695dup, XM_011529997.1:c.1687_1695dup, XM_011529998.3:c.1684_1692dup, XM_011529998.2:c.1684_1692dup, XM_011529998.1:c.1684_1692dup, XM_017028646.3:c.1672_1680dup, XM_017028646.2:c.1672_1680dup, XM_017028646.1:c.1672_1680dup, XM_017028645.3:c.1672_1680dup, XM_017028645.2:c.1672_1680dup, XM_017028645.1:c.1672_1680dup, XM_017028647.3:c.1669_1677dup, XM_017028647.2:c.1669_1677dup, XM_017028647.1:c.1669_1677dup, XM_011530000.3:c.1636_1644dup, XM_011530000.2:c.1636_1644dup, XM_011530000.1:c.1636_1644dup, XM_017028648.3:c.1630_1638dup, XM_017028648.2:c.1630_1638dup, XM_017028648.1:c.1630_1638dup, XM_017028649.3:c.1603_1611dup, XM_017028649.2:c.1603_1611dup, XM_017028649.1:c.1603_1611dup, XM_017028650.3:c.1564_1572dup, XM_017028650.2:c.1564_1572dup, XM_017028650.1:c.1564_1572dup, XM_017028652.3:c.1561_1569dup, XM_017028652.2:c.1561_1569dup, XM_017028652.1:c.1561_1569dup, XM_017028651.3:c.1561_1569dup, XM_017028651.2:c.1561_1569dup, XM_017028651.1:c.1561_1569dup, XM_017028653.3:c.1558_1566dup, XM_017028653.2:c.1558_1566dup, XM_017028653.1:c.1558_1566dup, XM_011530001.3:c.1558_1566dup, XM_011530001.2:c.1558_1566dup, XM_011530001.1:c.1558_1566dup, XM_017028656.3:c.1549_1557dup, XM_017028656.2:c.1549_1557dup, XM_017028656.1:c.1549_1557dup, XM_017028660.3:c.1507_1515dup, XM_017028660.2:c.1507_1515dup, XM_017028660.1:c.1507_1515dup, XM_017028662.3:c.1462_1470dup, XM_017028662.2:c.1462_1470dup, XM_017028662.1:c.1462_1470dup, XM_017028654.2:c.1555_1563dup, XM_017028654.1:c.1555_1563dup, XM_017028655.2:c.1552_1560dup, XM_017028655.1:c.1552_1560dup, XM_017028658.2:c.1516_1524dup, XM_017028658.1:c.1516_1524dup, XM_017028659.2:c.1513_1521dup, XM_017028659.1:c.1513_1521dup, XM_024452180.2:c.1456_1464dup, XM_024452180.1:c.1456_1464dup, XM_024452181.2:c.1414_1422dup, XM_024452181.1:c.1414_1422dup, XM_017028663.2:c.1390_1398dup, XM_017028663.1:c.1390_1398dup, XM_047441187.1:c.1633_1641dup, XM_047441186.1:c.1633_1641dup, XM_047441188.1:c.1600_1608dup, XM_047441189.1:c.1597_1605dup, XM_047441190.1:c.1552_1560dup, XM_047441191.1:c.1519_1527dup, XM_047441192.1:c.1513_1521dup, XM_047441194.1:c.1504_1512dup, XM_047441193.1:c.1504_1512dup, XM_047441195.1:c.1468_1476dup, XM_047441197.1:c.1465_1473dup, XM_047441196.1:c.1465_1473dup, XM_047441198.1:c.1453_1461dup, XM_047441199.1:c.1345_1353dup, XM_047441200.1:c.1342_1350dup, XM_047441201.1:c.1297_1305dup, NP_053733.2:p.Asp567_Gly569dup, NP_005234.1:p.Asp562_Gly564dup, NP_001156757.1:p.Asp561_Gly563dup, NP_001156758.1:p.Asp506_Gly508dup, XP_005261446.1:p.Asp575_Gly577dup, XP_005261447.1:p.Asp519_Gly521dup, XP_011528297.1:p.Asp576_Gly578dup, XP_011528298.1:p.Asp575_Gly577dup, XP_011528301.1:p.Asp559_Gly561dup, XP_011528304.1:p.Asp503_Gly505dup, XP_016884133.1:p.Asp574_Gly576dup, XP_011528299.1:p.Asp563_Gly565dup, XP_011528300.1:p.Asp562_Gly564dup, XP_016884135.1:p.Asp558_Gly560dup, XP_016884134.1:p.Asp558_Gly560dup, XP_016884136.1:p.Asp557_Gly559dup, XP_011528302.1:p.Asp546_Gly548dup, XP_016884137.1:p.Asp544_Gly546dup, XP_016884138.1:p.Asp535_Gly537dup, XP_016884139.1:p.Asp522_Gly524dup, XP_016884141.1:p.Asp521_Gly523dup, XP_016884140.1:p.Asp521_Gly523dup, XP_016884142.1:p.Asp520_Gly522dup, XP_011528303.1:p.Asp520_Gly522dup, XP_016884145.1:p.Asp517_Gly519dup, XP_016884149.1:p.Asp503_Gly505dup, XP_016884151.1:p.Asp488_Gly490dup, XP_016884143.1:p.Asp519_Gly521dup, XP_016884144.1:p.Asp518_Gly520dup, XP_016884147.1:p.Asp506_Gly508dup, XP_016884148.1:p.Asp505_Gly507dup, XP_024307948.1:p.Asp486_Gly488dup, XP_024307949.1:p.Asp472_Gly474dup, XP_016884152.1:p.Asp464_Gly466dup, XP_047297143.1:p.Asp545_Gly547dup, XP_047297142.1:p.Asp545_Gly547dup, XP_047297144.1:p.Asp534_Gly536dup, XP_047297145.1:p.Asp533_Gly535dup, XP_047297146.1:p.Asp518_Gly520dup, XP_047297147.1:p.Asp507_Gly509dup, XP_047297148.1:p.Asp505_Gly507dup, XP_047297150.1:p.Asp502_Gly504dup, XP_047297149.1:p.Asp502_Gly504dup, XP_047297151.1:p.Asp490_Gly492dup, XP_047297153.1:p.Asp489_Gly491dup, XP_047297152.1:p.Asp489_Gly491dup, XP_047297154.1:p.Asp485_Gly487dup, XP_047297155.1:p.Asp449_Gly451dup, XP_047297156.1:p.Asp448_Gly450dup, XP_047297157.1:p.Asp433_Gly435dup

                      11.

                      rs1471757949 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:29298838 (GRCh38)
                        22:29694828 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:29298837:A:G
                        Gene:
                        EWSR1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000009/2 (GnomAD_exomes)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000022.11:g.29298838A>G, NC_000022.10:g.29694828A>G, NG_023240.1:g.35831A>G, NM_013986.4:c.1538A>G, NM_013986.3:c.1538A>G, NM_005243.4:c.1523A>G, NM_005243.3:c.1523A>G, NM_001163285.2:c.1520A>G, NM_001163285.1:c.1520A>G, NM_001163286.2:c.1355A>G, NM_001163286.1:c.1355A>G, XM_005261389.5:c.1523A>G, XM_005261389.4:c.1523A>G, XM_005261389.3:c.1523A>G, XM_005261389.2:c.1523A>G, XM_005261389.1:c.1523A>G, XM_005261390.5:c.1355A>G, XM_005261390.4:c.1355A>G, XM_005261390.3:c.1355A>G, XM_005261390.2:c.1355A>G, XM_005261390.1:c.1355A>G, XM_011529995.4:c.1526A>G, XM_011529995.3:c.1526A>G, XM_011529995.2:c.1526A>G, XM_011529995.1:c.1526A>G, XM_011529996.4:c.1523A>G, XM_011529996.3:c.1523A>G, XM_011529996.2:c.1523A>G, XM_011529996.1:c.1523A>G, XM_011529999.4:c.1526A>G, XM_011529999.3:c.1526A>G, XM_011529999.2:c.1526A>G, XM_011529999.1:c.1526A>G, XM_011530002.4:c.1307A>G, XM_011530002.3:c.1307A>G, XM_011530002.2:c.1307A>G, XM_011530002.1:c.1307A>G, XM_017028644.3:c.1520A>G, XM_017028644.2:c.1520A>G, XM_017028644.1:c.1520A>G, XM_011529997.3:c.1526A>G, XM_011529997.2:c.1526A>G, XM_011529997.1:c.1526A>G, XM_011529998.3:c.1523A>G, XM_011529998.2:c.1523A>G, XM_011529998.1:c.1523A>G, XM_017028646.3:c.1523A>G, XM_017028646.2:c.1523A>G, XM_017028646.1:c.1523A>G, XM_017028645.3:c.1523A>G, XM_017028645.2:c.1523A>G, XM_017028645.1:c.1523A>G, XM_017028647.3:c.1520A>G, XM_017028647.2:c.1520A>G, XM_017028647.1:c.1520A>G, XM_011530000.3:c.1526A>G, XM_011530000.2:c.1526A>G, XM_011530000.1:c.1526A>G, XM_017028648.3:c.1520A>G, XM_017028648.2:c.1520A>G, XM_017028648.1:c.1520A>G, XM_017028649.3:c.1403A>G, XM_017028649.2:c.1403A>G, XM_017028649.1:c.1403A>G, XM_017028650.3:c.1403A>G, XM_017028650.2:c.1403A>G, XM_017028650.1:c.1403A>G, XM_017028652.3:c.1400A>G, XM_017028652.2:c.1400A>G, XM_017028652.1:c.1400A>G, XM_017028651.3:c.1400A>G, XM_017028651.2:c.1400A>G, XM_017028651.1:c.1400A>G, XM_017028653.3:c.1397A>G, XM_017028653.2:c.1397A>G, XM_017028653.1:c.1397A>G, XM_011530001.3:c.1358A>G, XM_011530001.2:c.1358A>G, XM_011530001.1:c.1358A>G, XM_017028656.3:c.1400A>G, XM_017028656.2:c.1400A>G, XM_017028656.1:c.1400A>G, XM_017028660.3:c.1397A>G, XM_017028660.2:c.1397A>G, XM_017028660.1:c.1397A>G, XM_017028662.3:c.1352A>G, XM_017028662.2:c.1352A>G, XM_017028662.1:c.1352A>G, XM_017028654.2:c.1355A>G, XM_017028654.1:c.1355A>G, XM_017028655.2:c.1352A>G, XM_017028655.1:c.1352A>G, XM_017028658.2:c.1355A>G, XM_017028658.1:c.1355A>G, XM_017028659.2:c.1352A>G, XM_017028659.1:c.1352A>G, XM_024452180.2:c.1307A>G, XM_024452180.1:c.1307A>G, XM_024452181.2:c.1304A>G, XM_024452181.1:c.1304A>G, XM_017028663.2:c.1229A>G, XM_017028663.1:c.1229A>G, XM_047441187.1:c.1523A>G, XM_047441186.1:c.1523A>G, XM_047441188.1:c.1400A>G, XM_047441189.1:c.1397A>G, XM_047441190.1:c.1403A>G, XM_047441191.1:c.1358A>G, XM_047441192.1:c.1403A>G, XM_047441194.1:c.1355A>G, XM_047441193.1:c.1304A>G, XM_047441195.1:c.1307A>G, XM_047441197.1:c.1355A>G, XM_047441196.1:c.1304A>G, XM_047441198.1:c.1304A>G, XM_047441199.1:c.1184A>G, XM_047441200.1:c.1181A>G, XM_047441201.1:c.1136A>G, NP_053733.2:p.Asn513Ser, NP_005234.1:p.Asn508Ser, NP_001156757.1:p.Asn507Ser, NP_001156758.1:p.Asn452Ser, XP_005261446.1:p.Asn508Ser, XP_005261447.1:p.Asn452Ser, XP_011528297.1:p.Asn509Ser, XP_011528298.1:p.Asn508Ser, XP_011528301.1:p.Asn509Ser, XP_011528304.1:p.Asn436Ser, XP_016884133.1:p.Asn507Ser, XP_011528299.1:p.Asn509Ser, XP_011528300.1:p.Asn508Ser, XP_016884135.1:p.Asn508Ser, XP_016884134.1:p.Asn508Ser, XP_016884136.1:p.Asn507Ser, XP_011528302.1:p.Asn509Ser, XP_016884137.1:p.Asn507Ser, XP_016884138.1:p.Asn468Ser, XP_016884139.1:p.Asn468Ser, XP_016884141.1:p.Asn467Ser, XP_016884140.1:p.Asn467Ser, XP_016884142.1:p.Asn466Ser, XP_011528303.1:p.Asn453Ser, XP_016884145.1:p.Asn467Ser, XP_016884149.1:p.Asn466Ser, XP_016884151.1:p.Asn451Ser, XP_016884143.1:p.Asn452Ser, XP_016884144.1:p.Asn451Ser, XP_016884147.1:p.Asn452Ser, XP_016884148.1:p.Asn451Ser, XP_024307948.1:p.Asn436Ser, XP_024307949.1:p.Asn435Ser, XP_016884152.1:p.Asn410Ser, XP_047297143.1:p.Asn508Ser, XP_047297142.1:p.Asn508Ser, XP_047297144.1:p.Asn467Ser, XP_047297145.1:p.Asn466Ser, XP_047297146.1:p.Asn468Ser, XP_047297147.1:p.Asn453Ser, XP_047297148.1:p.Asn468Ser, XP_047297150.1:p.Asn452Ser, XP_047297149.1:p.Asn435Ser, XP_047297151.1:p.Asn436Ser, XP_047297153.1:p.Asn452Ser, XP_047297152.1:p.Asn435Ser, XP_047297154.1:p.Asn435Ser, XP_047297155.1:p.Asn395Ser, XP_047297156.1:p.Asn394Ser, XP_047297157.1:p.Asn379Ser

                        12.

                        rs1469267402 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CTGCCACCCCGTGAGGGCAGAGGC>- [Show Flanks]
                          Chromosome:
                          22:29297904 (GRCh38)
                          22:29693894 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:29297903:CTGCCACCCCGTGAGGGCAGAGGC:
                          Gene:
                          EWSR1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:
                          NC_000022.11:g.29297904_29297927del, NC_000022.10:g.29693894_29693917del, NG_023240.1:g.34897_34920del, NM_013986.4:c.1387_1410del, NM_013986.3:c.1387_1410del, NM_005243.4:c.1372_1395del, NM_005243.3:c.1372_1395del, NM_001163285.2:c.1369_1392del, NM_001163285.1:c.1369_1392del, NM_001163286.2:c.1204_1227del, NM_001163286.1:c.1204_1227del, XM_005261389.5:c.1372_1395del, XM_005261389.4:c.1372_1395del, XM_005261389.3:c.1372_1395del, XM_005261389.2:c.1372_1395del, XM_005261389.1:c.1372_1395del, XM_005261390.5:c.1204_1227del, XM_005261390.4:c.1204_1227del, XM_005261390.3:c.1204_1227del, XM_005261390.2:c.1204_1227del, XM_005261390.1:c.1204_1227del, XM_011529995.4:c.1375_1398del, XM_011529995.3:c.1375_1398del, XM_011529995.2:c.1375_1398del, XM_011529995.1:c.1375_1398del, XM_011529996.4:c.1372_1395del, XM_011529996.3:c.1372_1395del, XM_011529996.2:c.1372_1395del, XM_011529996.1:c.1372_1395del, XM_011529999.4:c.1375_1398del, XM_011529999.3:c.1375_1398del, XM_011529999.2:c.1375_1398del, XM_011529999.1:c.1375_1398del, XM_011530002.4:c.1156_1179del, XM_011530002.3:c.1156_1179del, XM_011530002.2:c.1156_1179del, XM_011530002.1:c.1156_1179del, XM_017028644.3:c.1369_1392del, XM_017028644.2:c.1369_1392del, XM_017028644.1:c.1369_1392del, XM_011529997.3:c.1375_1398del, XM_011529997.2:c.1375_1398del, XM_011529997.1:c.1375_1398del, XM_011529998.3:c.1372_1395del, XM_011529998.2:c.1372_1395del, XM_011529998.1:c.1372_1395del, XM_017028646.3:c.1372_1395del, XM_017028646.2:c.1372_1395del, XM_017028646.1:c.1372_1395del, XM_017028645.3:c.1372_1395del, XM_017028645.2:c.1372_1395del, XM_017028645.1:c.1372_1395del, XM_017028647.3:c.1369_1392del, XM_017028647.2:c.1369_1392del, XM_017028647.1:c.1369_1392del, XM_011530000.3:c.1375_1398del, XM_011530000.2:c.1375_1398del, XM_011530000.1:c.1375_1398del, XM_017028648.3:c.1369_1392del, XM_017028648.2:c.1369_1392del, XM_017028648.1:c.1369_1392del, XM_011530001.3:c.1207_1230del, XM_011530001.2:c.1207_1230del, XM_011530001.1:c.1207_1230del, XM_017028662.3:c.1201_1224del, XM_017028662.2:c.1201_1224del, XM_017028662.1:c.1201_1224del, XM_017028654.2:c.1204_1227del, XM_017028654.1:c.1204_1227del, XM_017028655.2:c.1201_1224del, XM_017028655.1:c.1201_1224del, XM_017028658.2:c.1204_1227del, XM_017028658.1:c.1204_1227del, XM_017028659.2:c.1201_1224del, XM_017028659.1:c.1201_1224del, XM_024452180.2:c.1156_1179del, XM_024452180.1:c.1156_1179del, XM_024452181.2:c.1153_1176del, XM_024452181.1:c.1153_1176del, XM_047441187.1:c.1372_1395del, XM_047441186.1:c.1372_1395del, XM_047441191.1:c.1207_1230del, XM_047441194.1:c.1204_1227del, XM_047441193.1:c.1153_1176del, XM_047441195.1:c.1156_1179del, XM_047441197.1:c.1204_1227del, XM_047441196.1:c.1153_1176del, XM_047441198.1:c.1153_1176del, XM_047441201.1:c.985_1008del, NP_053733.2:p.Leu463_Gly470del, NP_005234.1:p.Leu458_Gly465del, NP_001156757.1:p.Leu457_Gly464del, NP_001156758.1:p.Leu402_Gly409del, XP_005261446.1:p.Leu458_Gly465del, XP_005261447.1:p.Leu402_Gly409del, XP_011528297.1:p.Leu459_Gly466del, XP_011528298.1:p.Leu458_Gly465del, XP_011528301.1:p.Leu459_Gly466del, XP_011528304.1:p.Leu386_Gly393del, XP_016884133.1:p.Leu457_Gly464del, XP_011528299.1:p.Leu459_Gly466del, XP_011528300.1:p.Leu458_Gly465del, XP_016884135.1:p.Leu458_Gly465del, XP_016884134.1:p.Leu458_Gly465del, XP_016884136.1:p.Leu457_Gly464del, XP_011528302.1:p.Leu459_Gly466del, XP_016884137.1:p.Leu457_Gly464del, XP_011528303.1:p.Leu403_Gly410del, XP_016884151.1:p.Leu401_Gly408del, XP_016884143.1:p.Leu402_Gly409del, XP_016884144.1:p.Leu401_Gly408del, XP_016884147.1:p.Leu402_Gly409del, XP_016884148.1:p.Leu401_Gly408del, XP_024307948.1:p.Leu386_Gly393del, XP_024307949.1:p.Leu385_Gly392del, XP_047297143.1:p.Leu458_Gly465del, XP_047297142.1:p.Leu458_Gly465del, XP_047297147.1:p.Leu403_Gly410del, XP_047297150.1:p.Leu402_Gly409del, XP_047297149.1:p.Leu385_Gly392del, XP_047297151.1:p.Leu386_Gly393del, XP_047297153.1:p.Leu402_Gly409del, XP_047297152.1:p.Leu385_Gly392del, XP_047297154.1:p.Leu385_Gly392del, XP_047297157.1:p.Leu329_Gly336del

                          13.

                          rs1468094449 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:29282439 (GRCh38)
                            22:29678428 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:29282438:A:G
                            Gene:
                            EWSR1 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_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_000022.11:g.29282439A>G, NC_000022.10:g.29678428A>G, NG_023240.1:g.19431A>G, NM_013986.4:c.481A>G, NM_013986.3:c.481A>G, NM_005243.4:c.463A>G, NM_005243.3:c.463A>G, NM_001163285.2:c.463A>G, NM_001163285.1:c.463A>G, NM_001163287.2:c.463A>G, NM_001163287.1:c.463A>G, XM_005261389.5:c.463A>G, XM_005261389.4:c.463A>G, XM_005261389.3:c.463A>G, XM_005261389.2:c.463A>G, XM_005261389.1:c.463A>G, XM_011529995.4:c.466A>G, XM_011529995.3:c.466A>G, XM_011529995.2:c.466A>G, XM_011529995.1:c.466A>G, XM_011529996.4:c.466A>G, XM_011529996.3:c.466A>G, XM_011529996.2:c.466A>G, XM_011529996.1:c.466A>G, XM_011529999.4:c.466A>G, XM_011529999.3:c.466A>G, XM_011529999.2:c.466A>G, XM_011529999.1:c.466A>G, XM_011530002.4:c.466A>G, XM_011530002.3:c.466A>G, XM_011530002.2:c.466A>G, XM_011530002.1:c.466A>G, XM_017028644.3:c.463A>G, XM_017028644.2:c.463A>G, XM_017028644.1:c.463A>G, XM_011529997.3:c.466A>G, XM_011529997.2:c.466A>G, XM_011529997.1:c.466A>G, XM_011529998.3:c.466A>G, XM_011529998.2:c.466A>G, XM_011529998.1:c.466A>G, XM_017028646.3:c.466A>G, XM_017028646.2:c.466A>G, XM_017028646.1:c.466A>G, XM_017028645.3:c.463A>G, XM_017028645.2:c.463A>G, XM_017028645.1:c.463A>G, XM_017028647.3:c.463A>G, XM_017028647.2:c.463A>G, XM_017028647.1:c.463A>G, XM_011530000.3:c.466A>G, XM_011530000.2:c.466A>G, XM_011530000.1:c.466A>G, XM_017028648.3:c.463A>G, XM_017028648.2:c.463A>G, XM_017028648.1:c.463A>G, XM_017028649.3:c.466A>G, XM_017028649.2:c.466A>G, XM_017028649.1:c.466A>G, XM_017028650.3:c.466A>G, XM_017028650.2:c.466A>G, XM_017028650.1:c.466A>G, XM_017028652.3:c.466A>G, XM_017028652.2:c.466A>G, XM_017028652.1:c.466A>G, XM_017028651.3:c.463A>G, XM_017028651.2:c.463A>G, XM_017028651.1:c.463A>G, XM_017028653.3:c.463A>G, XM_017028653.2:c.463A>G, XM_017028653.1:c.463A>G, XM_017028656.3:c.463A>G, XM_017028656.2:c.463A>G, XM_017028656.1:c.463A>G, XM_017028660.3:c.463A>G, XM_017028660.2:c.463A>G, XM_017028660.1:c.463A>G, XM_024452180.2:c.466A>G, XM_024452180.1:c.466A>G, XM_024452181.2:c.463A>G, XM_024452181.1:c.463A>G, XM_047441187.1:c.466A>G, XM_047441186.1:c.463A>G, XM_047441188.1:c.463A>G, XM_047441189.1:c.463A>G, XM_047441190.1:c.466A>G, XM_047441192.1:c.466A>G, XM_047441193.1:c.463A>G, XM_047441195.1:c.466A>G, XM_047441196.1:c.463A>G, XM_047441198.1:c.463A>G, XM_047441199.1:c.466A>G, XM_047441200.1:c.463A>G, XM_047441202.1:c.463A>G, NP_053733.2:p.Thr161Ala, NP_005234.1:p.Thr155Ala, NP_001156757.1:p.Thr155Ala, NP_001156759.1:p.Thr155Ala, XP_005261446.1:p.Thr155Ala, XP_011528297.1:p.Thr156Ala, XP_011528298.1:p.Thr156Ala, XP_011528301.1:p.Thr156Ala, XP_011528304.1:p.Thr156Ala, XP_016884133.1:p.Thr155Ala, XP_011528299.1:p.Thr156Ala, XP_011528300.1:p.Thr156Ala, XP_016884135.1:p.Thr156Ala, XP_016884134.1:p.Thr155Ala, XP_016884136.1:p.Thr155Ala, XP_011528302.1:p.Thr156Ala, XP_016884137.1:p.Thr155Ala, XP_016884138.1:p.Thr156Ala, XP_016884139.1:p.Thr156Ala, XP_016884141.1:p.Thr156Ala, XP_016884140.1:p.Thr155Ala, XP_016884142.1:p.Thr155Ala, XP_016884145.1:p.Thr155Ala, XP_016884149.1:p.Thr155Ala, XP_024307948.1:p.Thr156Ala, XP_024307949.1:p.Thr155Ala, XP_047297143.1:p.Thr156Ala, XP_047297142.1:p.Thr155Ala, XP_047297144.1:p.Thr155Ala, XP_047297145.1:p.Thr155Ala, XP_047297146.1:p.Thr156Ala, XP_047297148.1:p.Thr156Ala, XP_047297149.1:p.Thr155Ala, XP_047297151.1:p.Thr156Ala, XP_047297152.1:p.Thr155Ala, XP_047297154.1:p.Thr155Ala, XP_047297155.1:p.Thr156Ala, XP_047297156.1:p.Thr155Ala, XP_047297158.1:p.Thr155Ala

                            14.

                            rs1467736672 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:29288717 (GRCh38)
                              22:29684706 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:29288716:G:A
                              Gene:
                              EWSR1 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000022.11:g.29288717G>A, NC_000022.10:g.29684706G>A, NG_023240.1:g.25709G>A, NM_013986.4:c.923G>A, NM_013986.3:c.923G>A, NM_005243.4:c.905G>A, NM_005243.3:c.905G>A, NM_001163285.2:c.905G>A, NM_001163285.1:c.905G>A, NM_001163286.2:c.737G>A, NM_001163286.1:c.737G>A, NM_001163287.2:c.905G>A, NM_001163287.1:c.905G>A, XM_005261389.5:c.905G>A, XM_005261389.4:c.905G>A, XM_005261389.3:c.905G>A, XM_005261389.2:c.905G>A, XM_005261389.1:c.905G>A, XM_005261390.5:c.737G>A, XM_005261390.4:c.737G>A, XM_005261390.3:c.737G>A, XM_005261390.2:c.737G>A, XM_005261390.1:c.737G>A, XM_011529995.4:c.908G>A, XM_011529995.3:c.908G>A, XM_011529995.2:c.908G>A, XM_011529995.1:c.908G>A, XM_011529996.4:c.908G>A, XM_011529996.3:c.908G>A, XM_011529996.2:c.908G>A, XM_011529996.1:c.908G>A, XM_011529999.4:c.908G>A, XM_011529999.3:c.908G>A, XM_011529999.2:c.908G>A, XM_011529999.1:c.908G>A, XM_017028644.3:c.905G>A, XM_017028644.2:c.905G>A, XM_017028644.1:c.905G>A, XM_011529997.3:c.908G>A, XM_011529997.2:c.908G>A, XM_011529997.1:c.908G>A, XM_011529998.3:c.908G>A, XM_011529998.2:c.908G>A, XM_011529998.1:c.908G>A, XM_017028646.3:c.908G>A, XM_017028646.2:c.908G>A, XM_017028646.1:c.908G>A, XM_017028645.3:c.905G>A, XM_017028645.2:c.905G>A, XM_017028645.1:c.905G>A, XM_017028647.3:c.905G>A, XM_017028647.2:c.905G>A, XM_017028647.1:c.905G>A, XM_011530000.3:c.908G>A, XM_011530000.2:c.908G>A, XM_011530000.1:c.908G>A, XM_017028648.3:c.905G>A, XM_017028648.2:c.905G>A, XM_017028648.1:c.905G>A, XM_017028649.3:c.908G>A, XM_017028649.2:c.908G>A, XM_017028649.1:c.908G>A, XM_017028650.3:c.908G>A, XM_017028650.2:c.908G>A, XM_017028650.1:c.908G>A, XM_017028652.3:c.908G>A, XM_017028652.2:c.908G>A, XM_017028652.1:c.908G>A, XM_017028651.3:c.905G>A, XM_017028651.2:c.905G>A, XM_017028651.1:c.905G>A, XM_017028653.3:c.905G>A, XM_017028653.2:c.905G>A, XM_017028653.1:c.905G>A, XM_011530001.3:c.740G>A, XM_011530001.2:c.740G>A, XM_011530001.1:c.740G>A, XM_017028656.3:c.905G>A, XM_017028656.2:c.905G>A, XM_017028656.1:c.905G>A, XM_017028660.3:c.905G>A, XM_017028660.2:c.905G>A, XM_017028660.1:c.905G>A, XM_017028662.3:c.737G>A, XM_017028662.2:c.737G>A, XM_017028662.1:c.737G>A, XM_017028654.2:c.740G>A, XM_017028654.1:c.740G>A, XM_017028655.2:c.737G>A, XM_017028655.1:c.737G>A, XM_017028658.2:c.740G>A, XM_017028658.1:c.740G>A, XM_017028659.2:c.737G>A, XM_017028659.1:c.737G>A, XM_017028663.2:c.737G>A, XM_017028663.1:c.737G>A, XM_047441187.1:c.908G>A, XM_047441186.1:c.905G>A, XM_047441188.1:c.905G>A, XM_047441189.1:c.905G>A, XM_047441190.1:c.908G>A, XM_047441191.1:c.740G>A, XM_047441192.1:c.908G>A, XM_047441194.1:c.737G>A, XM_047441197.1:c.737G>A, XM_047441202.1:c.905G>A, NP_053733.2:p.Arg308Lys, NP_005234.1:p.Arg302Lys, NP_001156757.1:p.Arg302Lys, NP_001156758.1:p.Arg246Lys, NP_001156759.1:p.Arg302Lys, XP_005261446.1:p.Arg302Lys, XP_005261447.1:p.Arg246Lys, XP_011528297.1:p.Arg303Lys, XP_011528298.1:p.Arg303Lys, XP_011528301.1:p.Arg303Lys, XP_016884133.1:p.Arg302Lys, XP_011528299.1:p.Arg303Lys, XP_011528300.1:p.Arg303Lys, XP_016884135.1:p.Arg303Lys, XP_016884134.1:p.Arg302Lys, XP_016884136.1:p.Arg302Lys, XP_011528302.1:p.Arg303Lys, XP_016884137.1:p.Arg302Lys, XP_016884138.1:p.Arg303Lys, XP_016884139.1:p.Arg303Lys, XP_016884141.1:p.Arg303Lys, XP_016884140.1:p.Arg302Lys, XP_016884142.1:p.Arg302Lys, XP_011528303.1:p.Arg247Lys, XP_016884145.1:p.Arg302Lys, XP_016884149.1:p.Arg302Lys, XP_016884151.1:p.Arg246Lys, XP_016884143.1:p.Arg247Lys, XP_016884144.1:p.Arg246Lys, XP_016884147.1:p.Arg247Lys, XP_016884148.1:p.Arg246Lys, XP_016884152.1:p.Arg246Lys, XP_047297143.1:p.Arg303Lys, XP_047297142.1:p.Arg302Lys, XP_047297144.1:p.Arg302Lys, XP_047297145.1:p.Arg302Lys, XP_047297146.1:p.Arg303Lys, XP_047297147.1:p.Arg247Lys, XP_047297148.1:p.Arg303Lys, XP_047297150.1:p.Arg246Lys, XP_047297153.1:p.Arg246Lys, XP_047297158.1:p.Arg302Lys

                              15.

                              rs1466926071 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:29288702 (GRCh38)
                                22:29684691 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:29288701:C:T
                                Gene:
                                EWSR1 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.29288702C>T, NC_000022.10:g.29684691C>T, NG_023240.1:g.25694C>T, NM_013986.4:c.908C>T, NM_013986.3:c.908C>T, NM_005243.4:c.890C>T, NM_005243.3:c.890C>T, NM_001163285.2:c.890C>T, NM_001163285.1:c.890C>T, NM_001163286.2:c.722C>T, NM_001163286.1:c.722C>T, NM_001163287.2:c.890C>T, NM_001163287.1:c.890C>T, XM_005261389.5:c.890C>T, XM_005261389.4:c.890C>T, XM_005261389.3:c.890C>T, XM_005261389.2:c.890C>T, XM_005261389.1:c.890C>T, XM_005261390.5:c.722C>T, XM_005261390.4:c.722C>T, XM_005261390.3:c.722C>T, XM_005261390.2:c.722C>T, XM_005261390.1:c.722C>T, XM_011529995.4:c.893C>T, XM_011529995.3:c.893C>T, XM_011529995.2:c.893C>T, XM_011529995.1:c.893C>T, XM_011529996.4:c.893C>T, XM_011529996.3:c.893C>T, XM_011529996.2:c.893C>T, XM_011529996.1:c.893C>T, XM_011529999.4:c.893C>T, XM_011529999.3:c.893C>T, XM_011529999.2:c.893C>T, XM_011529999.1:c.893C>T, XM_017028644.3:c.890C>T, XM_017028644.2:c.890C>T, XM_017028644.1:c.890C>T, XM_011529997.3:c.893C>T, XM_011529997.2:c.893C>T, XM_011529997.1:c.893C>T, XM_011529998.3:c.893C>T, XM_011529998.2:c.893C>T, XM_011529998.1:c.893C>T, XM_017028646.3:c.893C>T, XM_017028646.2:c.893C>T, XM_017028646.1:c.893C>T, XM_017028645.3:c.890C>T, XM_017028645.2:c.890C>T, XM_017028645.1:c.890C>T, XM_017028647.3:c.890C>T, XM_017028647.2:c.890C>T, XM_017028647.1:c.890C>T, XM_011530000.3:c.893C>T, XM_011530000.2:c.893C>T, XM_011530000.1:c.893C>T, XM_017028648.3:c.890C>T, XM_017028648.2:c.890C>T, XM_017028648.1:c.890C>T, XM_017028649.3:c.893C>T, XM_017028649.2:c.893C>T, XM_017028649.1:c.893C>T, XM_017028650.3:c.893C>T, XM_017028650.2:c.893C>T, XM_017028650.1:c.893C>T, XM_017028652.3:c.893C>T, XM_017028652.2:c.893C>T, XM_017028652.1:c.893C>T, XM_017028651.3:c.890C>T, XM_017028651.2:c.890C>T, XM_017028651.1:c.890C>T, XM_017028653.3:c.890C>T, XM_017028653.2:c.890C>T, XM_017028653.1:c.890C>T, XM_011530001.3:c.725C>T, XM_011530001.2:c.725C>T, XM_011530001.1:c.725C>T, XM_017028656.3:c.890C>T, XM_017028656.2:c.890C>T, XM_017028656.1:c.890C>T, XM_017028660.3:c.890C>T, XM_017028660.2:c.890C>T, XM_017028660.1:c.890C>T, XM_017028662.3:c.722C>T, XM_017028662.2:c.722C>T, XM_017028662.1:c.722C>T, XM_017028654.2:c.725C>T, XM_017028654.1:c.725C>T, XM_017028655.2:c.722C>T, XM_017028655.1:c.722C>T, XM_017028658.2:c.725C>T, XM_017028658.1:c.725C>T, XM_017028659.2:c.722C>T, XM_017028659.1:c.722C>T, XM_017028663.2:c.722C>T, XM_017028663.1:c.722C>T, XM_047441187.1:c.893C>T, XM_047441186.1:c.890C>T, XM_047441188.1:c.890C>T, XM_047441189.1:c.890C>T, XM_047441190.1:c.893C>T, XM_047441191.1:c.725C>T, XM_047441192.1:c.893C>T, XM_047441194.1:c.722C>T, XM_047441197.1:c.722C>T, XM_047441202.1:c.890C>T, NP_053733.2:p.Pro303Leu, NP_005234.1:p.Pro297Leu, NP_001156757.1:p.Pro297Leu, NP_001156758.1:p.Pro241Leu, NP_001156759.1:p.Pro297Leu, XP_005261446.1:p.Pro297Leu, XP_005261447.1:p.Pro241Leu, XP_011528297.1:p.Pro298Leu, XP_011528298.1:p.Pro298Leu, XP_011528301.1:p.Pro298Leu, XP_016884133.1:p.Pro297Leu, XP_011528299.1:p.Pro298Leu, XP_011528300.1:p.Pro298Leu, XP_016884135.1:p.Pro298Leu, XP_016884134.1:p.Pro297Leu, XP_016884136.1:p.Pro297Leu, XP_011528302.1:p.Pro298Leu, XP_016884137.1:p.Pro297Leu, XP_016884138.1:p.Pro298Leu, XP_016884139.1:p.Pro298Leu, XP_016884141.1:p.Pro298Leu, XP_016884140.1:p.Pro297Leu, XP_016884142.1:p.Pro297Leu, XP_011528303.1:p.Pro242Leu, XP_016884145.1:p.Pro297Leu, XP_016884149.1:p.Pro297Leu, XP_016884151.1:p.Pro241Leu, XP_016884143.1:p.Pro242Leu, XP_016884144.1:p.Pro241Leu, XP_016884147.1:p.Pro242Leu, XP_016884148.1:p.Pro241Leu, XP_016884152.1:p.Pro241Leu, XP_047297143.1:p.Pro298Leu, XP_047297142.1:p.Pro297Leu, XP_047297144.1:p.Pro297Leu, XP_047297145.1:p.Pro297Leu, XP_047297146.1:p.Pro298Leu, XP_047297147.1:p.Pro242Leu, XP_047297148.1:p.Pro298Leu, XP_047297150.1:p.Pro241Leu, XP_047297153.1:p.Pro241Leu, XP_047297158.1:p.Pro297Leu

                                16.

                                rs1463844985 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:29272413 (GRCh38)
                                  22:29668402 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:29272412:A:G
                                  Gene:
                                  EWSR1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.29272413A>G, NC_000022.10:g.29668402A>G, NG_023240.1:g.9405A>G, NM_013986.4:c.84A>G, NM_013986.3:c.84A>G, NM_005243.4:c.84A>G, NM_005243.3:c.84A>G, NM_001163285.2:c.84A>G, NM_001163285.1:c.84A>G, NM_001163286.2:c.84A>G, NM_001163286.1:c.84A>G, NM_001163287.2:c.84A>G, NM_001163287.1:c.84A>G, XM_005261389.5:c.84A>G, XM_005261389.4:c.84A>G, XM_005261389.3:c.84A>G, XM_005261389.2:c.84A>G, XM_005261389.1:c.84A>G, XM_005261390.5:c.84A>G, XM_005261390.4:c.84A>G, XM_005261390.3:c.84A>G, XM_005261390.2:c.84A>G, XM_005261390.1:c.84A>G, XM_011529995.4:c.84A>G, XM_011529995.3:c.84A>G, XM_011529995.2:c.84A>G, XM_011529995.1:c.84A>G, XM_011529996.4:c.84A>G, XM_011529996.3:c.84A>G, XM_011529996.2:c.84A>G, XM_011529996.1:c.84A>G, XM_011529999.4:c.84A>G, XM_011529999.3:c.84A>G, XM_011529999.2:c.84A>G, XM_011529999.1:c.84A>G, XM_011530002.4:c.84A>G, XM_011530002.3:c.84A>G, XM_011530002.2:c.84A>G, XM_011530002.1:c.84A>G, XM_017028644.3:c.84A>G, XM_017028644.2:c.84A>G, XM_017028644.1:c.84A>G, XM_011529997.3:c.84A>G, XM_011529997.2:c.84A>G, XM_011529997.1:c.84A>G, XM_011529998.3:c.84A>G, XM_011529998.2:c.84A>G, XM_011529998.1:c.84A>G, XM_017028646.3:c.84A>G, XM_017028646.2:c.84A>G, XM_017028646.1:c.84A>G, XM_017028645.3:c.84A>G, XM_017028645.2:c.84A>G, XM_017028645.1:c.84A>G, XM_017028647.3:c.84A>G, XM_017028647.2:c.84A>G, XM_017028647.1:c.84A>G, XM_011530000.3:c.84A>G, XM_011530000.2:c.84A>G, XM_011530000.1:c.84A>G, XM_017028648.3:c.84A>G, XM_017028648.2:c.84A>G, XM_017028648.1:c.84A>G, XM_017028649.3:c.84A>G, XM_017028649.2:c.84A>G, XM_017028649.1:c.84A>G, XM_017028650.3:c.84A>G, XM_017028650.2:c.84A>G, XM_017028650.1:c.84A>G, XM_017028652.3:c.84A>G, XM_017028652.2:c.84A>G, XM_017028652.1:c.84A>G, XM_017028651.3:c.84A>G, XM_017028651.2:c.84A>G, XM_017028651.1:c.84A>G, XM_017028653.3:c.84A>G, XM_017028653.2:c.84A>G, XM_017028653.1:c.84A>G, XM_011530001.3:c.84A>G, XM_011530001.2:c.84A>G, XM_011530001.1:c.84A>G, XM_017028656.3:c.84A>G, XM_017028656.2:c.84A>G, XM_017028656.1:c.84A>G, XM_017028660.3:c.84A>G, XM_017028660.2:c.84A>G, XM_017028660.1:c.84A>G, XM_017028662.3:c.84A>G, XM_017028662.2:c.84A>G, XM_017028662.1:c.84A>G, XM_017028654.2:c.84A>G, XM_017028654.1:c.84A>G, XM_017028655.2:c.84A>G, XM_017028655.1:c.84A>G, XM_017028658.2:c.84A>G, XM_017028658.1:c.84A>G, XM_017028659.2:c.84A>G, XM_017028659.1:c.84A>G, XM_024452180.2:c.84A>G, XM_024452180.1:c.84A>G, XM_024452181.2:c.84A>G, XM_024452181.1:c.84A>G, XM_017028663.2:c.84A>G, XM_017028663.1:c.84A>G, XM_047441187.1:c.84A>G, XM_047441186.1:c.84A>G, XM_047441188.1:c.84A>G, XM_047441189.1:c.84A>G, XM_047441190.1:c.84A>G, XM_047441191.1:c.84A>G, XM_047441192.1:c.84A>G, XM_047441194.1:c.84A>G, XM_047441193.1:c.84A>G, XM_047441195.1:c.84A>G, XM_047441197.1:c.84A>G, XM_047441196.1:c.84A>G, XM_047441198.1:c.84A>G, XM_047441199.1:c.84A>G, XM_047441200.1:c.84A>G, XM_047441201.1:c.84A>G, XM_047441202.1:c.84A>G

                                  17.

                                  rs1462786901 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:29292593 (GRCh38)
                                    22:29688582 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:29292592:G:A
                                    Gene:
                                    EWSR1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.29292593G>A, NC_000022.10:g.29688582G>A, NG_023240.1:g.29585G>A, NM_013986.4:c.1166G>A, NM_013986.3:c.1166G>A, NM_005243.4:c.1151G>A, NM_005243.3:c.1151G>A, NM_001163285.2:c.1148G>A, NM_001163285.1:c.1148G>A, NM_001163286.2:c.983G>A, NM_001163286.1:c.983G>A, XM_005261389.5:c.1151G>A, XM_005261389.4:c.1151G>A, XM_005261389.3:c.1151G>A, XM_005261389.2:c.1151G>A, XM_005261389.1:c.1151G>A, XM_005261390.5:c.983G>A, XM_005261390.4:c.983G>A, XM_005261390.3:c.983G>A, XM_005261390.2:c.983G>A, XM_005261390.1:c.983G>A, XM_011529995.4:c.1154G>A, XM_011529995.3:c.1154G>A, XM_011529995.2:c.1154G>A, XM_011529995.1:c.1154G>A, XM_011529996.4:c.1151G>A, XM_011529996.3:c.1151G>A, XM_011529996.2:c.1151G>A, XM_011529996.1:c.1151G>A, XM_011529999.4:c.1154G>A, XM_011529999.3:c.1154G>A, XM_011529999.2:c.1154G>A, XM_011529999.1:c.1154G>A, XM_011530002.4:c.935G>A, XM_011530002.3:c.935G>A, XM_011530002.2:c.935G>A, XM_011530002.1:c.935G>A, XM_017028644.3:c.1148G>A, XM_017028644.2:c.1148G>A, XM_017028644.1:c.1148G>A, XM_011529997.3:c.1154G>A, XM_011529997.2:c.1154G>A, XM_011529997.1:c.1154G>A, XM_011529998.3:c.1151G>A, XM_011529998.2:c.1151G>A, XM_011529998.1:c.1151G>A, XM_017028646.3:c.1151G>A, XM_017028646.2:c.1151G>A, XM_017028646.1:c.1151G>A, XM_017028645.3:c.1151G>A, XM_017028645.2:c.1151G>A, XM_017028645.1:c.1151G>A, XM_017028647.3:c.1148G>A, XM_017028647.2:c.1148G>A, XM_017028647.1:c.1148G>A, XM_011530000.3:c.1154G>A, XM_011530000.2:c.1154G>A, XM_011530000.1:c.1154G>A, XM_017028648.3:c.1148G>A, XM_017028648.2:c.1148G>A, XM_017028648.1:c.1148G>A, XM_017028649.3:c.1154G>A, XM_017028649.2:c.1154G>A, XM_017028649.1:c.1154G>A, XM_017028650.3:c.1154G>A, XM_017028650.2:c.1154G>A, XM_017028650.1:c.1154G>A, XM_017028652.3:c.1151G>A, XM_017028652.2:c.1151G>A, XM_017028652.1:c.1151G>A, XM_017028651.3:c.1151G>A, XM_017028651.2:c.1151G>A, XM_017028651.1:c.1151G>A, XM_017028653.3:c.1148G>A, XM_017028653.2:c.1148G>A, XM_017028653.1:c.1148G>A, XM_011530001.3:c.986G>A, XM_011530001.2:c.986G>A, XM_011530001.1:c.986G>A, XM_017028656.3:c.1151G>A, XM_017028656.2:c.1151G>A, XM_017028656.1:c.1151G>A, XM_017028660.3:c.1148G>A, XM_017028660.2:c.1148G>A, XM_017028660.1:c.1148G>A, XM_017028662.3:c.980G>A, XM_017028662.2:c.980G>A, XM_017028662.1:c.980G>A, XM_017028654.2:c.983G>A, XM_017028654.1:c.983G>A, XM_017028655.2:c.980G>A, XM_017028655.1:c.980G>A, XM_017028658.2:c.983G>A, XM_017028658.1:c.983G>A, XM_017028659.2:c.980G>A, XM_017028659.1:c.980G>A, XM_024452180.2:c.935G>A, XM_024452180.1:c.935G>A, XM_024452181.2:c.932G>A, XM_024452181.1:c.932G>A, XM_017028663.2:c.980G>A, XM_017028663.1:c.980G>A, XM_047441187.1:c.1151G>A, XM_047441186.1:c.1151G>A, XM_047441188.1:c.1151G>A, XM_047441189.1:c.1148G>A, XM_047441190.1:c.1154G>A, XM_047441191.1:c.986G>A, XM_047441192.1:c.1154G>A, XM_047441194.1:c.983G>A, XM_047441193.1:c.932G>A, XM_047441195.1:c.935G>A, XM_047441197.1:c.983G>A, XM_047441196.1:c.932G>A, XM_047441198.1:c.932G>A, XM_047441199.1:c.935G>A, XM_047441200.1:c.932G>A, XM_047441201.1:c.764G>A, NP_053733.2:p.Cys389Tyr, NP_005234.1:p.Cys384Tyr, NP_001156757.1:p.Cys383Tyr, NP_001156758.1:p.Cys328Tyr, XP_005261446.1:p.Cys384Tyr, XP_005261447.1:p.Cys328Tyr, XP_011528297.1:p.Cys385Tyr, XP_011528298.1:p.Cys384Tyr, XP_011528301.1:p.Cys385Tyr, XP_011528304.1:p.Cys312Tyr, XP_016884133.1:p.Cys383Tyr, XP_011528299.1:p.Cys385Tyr, XP_011528300.1:p.Cys384Tyr, XP_016884135.1:p.Cys384Tyr, XP_016884134.1:p.Cys384Tyr, XP_016884136.1:p.Cys383Tyr, XP_011528302.1:p.Cys385Tyr, XP_016884137.1:p.Cys383Tyr, XP_016884138.1:p.Cys385Tyr, XP_016884139.1:p.Cys385Tyr, XP_016884141.1:p.Cys384Tyr, XP_016884140.1:p.Cys384Tyr, XP_016884142.1:p.Cys383Tyr, XP_011528303.1:p.Cys329Tyr, XP_016884145.1:p.Cys384Tyr, XP_016884149.1:p.Cys383Tyr, XP_016884151.1:p.Cys327Tyr, XP_016884143.1:p.Cys328Tyr, XP_016884144.1:p.Cys327Tyr, XP_016884147.1:p.Cys328Tyr, XP_016884148.1:p.Cys327Tyr, XP_024307948.1:p.Cys312Tyr, XP_024307949.1:p.Cys311Tyr, XP_016884152.1:p.Cys327Tyr, XP_047297143.1:p.Cys384Tyr, XP_047297142.1:p.Cys384Tyr, XP_047297144.1:p.Cys384Tyr, XP_047297145.1:p.Cys383Tyr, XP_047297146.1:p.Cys385Tyr, XP_047297147.1:p.Cys329Tyr, XP_047297148.1:p.Cys385Tyr, XP_047297150.1:p.Cys328Tyr, XP_047297149.1:p.Cys311Tyr, XP_047297151.1:p.Cys312Tyr, XP_047297153.1:p.Cys328Tyr, XP_047297152.1:p.Cys311Tyr, XP_047297154.1:p.Cys311Tyr, XP_047297155.1:p.Cys312Tyr, XP_047297156.1:p.Cys311Tyr, XP_047297157.1:p.Cys255Tyr

                                    18.

                                    rs1460190535 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      22:29288668 (GRCh38)
                                      22:29684657 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:29288667:T:A
                                      Gene:
                                      EWSR1 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.29288668T>A, NC_000022.10:g.29684657T>A, NG_023240.1:g.25660T>A, NM_013986.4:c.874T>A, NM_013986.3:c.874T>A, NM_005243.4:c.856T>A, NM_005243.3:c.856T>A, NM_001163285.2:c.856T>A, NM_001163285.1:c.856T>A, NM_001163286.2:c.688T>A, NM_001163286.1:c.688T>A, NM_001163287.2:c.856T>A, NM_001163287.1:c.856T>A, XM_005261389.5:c.856T>A, XM_005261389.4:c.856T>A, XM_005261389.3:c.856T>A, XM_005261389.2:c.856T>A, XM_005261389.1:c.856T>A, XM_005261390.5:c.688T>A, XM_005261390.4:c.688T>A, XM_005261390.3:c.688T>A, XM_005261390.2:c.688T>A, XM_005261390.1:c.688T>A, XM_011529995.4:c.859T>A, XM_011529995.3:c.859T>A, XM_011529995.2:c.859T>A, XM_011529995.1:c.859T>A, XM_011529996.4:c.859T>A, XM_011529996.3:c.859T>A, XM_011529996.2:c.859T>A, XM_011529996.1:c.859T>A, XM_011529999.4:c.859T>A, XM_011529999.3:c.859T>A, XM_011529999.2:c.859T>A, XM_011529999.1:c.859T>A, XM_017028644.3:c.856T>A, XM_017028644.2:c.856T>A, XM_017028644.1:c.856T>A, XM_011529997.3:c.859T>A, XM_011529997.2:c.859T>A, XM_011529997.1:c.859T>A, XM_011529998.3:c.859T>A, XM_011529998.2:c.859T>A, XM_011529998.1:c.859T>A, XM_017028646.3:c.859T>A, XM_017028646.2:c.859T>A, XM_017028646.1:c.859T>A, XM_017028645.3:c.856T>A, XM_017028645.2:c.856T>A, XM_017028645.1:c.856T>A, XM_017028647.3:c.856T>A, XM_017028647.2:c.856T>A, XM_017028647.1:c.856T>A, XM_011530000.3:c.859T>A, XM_011530000.2:c.859T>A, XM_011530000.1:c.859T>A, XM_017028648.3:c.856T>A, XM_017028648.2:c.856T>A, XM_017028648.1:c.856T>A, XM_017028649.3:c.859T>A, XM_017028649.2:c.859T>A, XM_017028649.1:c.859T>A, XM_017028650.3:c.859T>A, XM_017028650.2:c.859T>A, XM_017028650.1:c.859T>A, XM_017028652.3:c.859T>A, XM_017028652.2:c.859T>A, XM_017028652.1:c.859T>A, XM_017028651.3:c.856T>A, XM_017028651.2:c.856T>A, XM_017028651.1:c.856T>A, XM_017028653.3:c.856T>A, XM_017028653.2:c.856T>A, XM_017028653.1:c.856T>A, XM_011530001.3:c.691T>A, XM_011530001.2:c.691T>A, XM_011530001.1:c.691T>A, XM_017028656.3:c.856T>A, XM_017028656.2:c.856T>A, XM_017028656.1:c.856T>A, XM_017028660.3:c.856T>A, XM_017028660.2:c.856T>A, XM_017028660.1:c.856T>A, XM_017028662.3:c.688T>A, XM_017028662.2:c.688T>A, XM_017028662.1:c.688T>A, XM_017028654.2:c.691T>A, XM_017028654.1:c.691T>A, XM_017028655.2:c.688T>A, XM_017028655.1:c.688T>A, XM_017028658.2:c.691T>A, XM_017028658.1:c.691T>A, XM_017028659.2:c.688T>A, XM_017028659.1:c.688T>A, XM_017028663.2:c.688T>A, XM_017028663.1:c.688T>A, XM_047441187.1:c.859T>A, XM_047441186.1:c.856T>A, XM_047441188.1:c.856T>A, XM_047441189.1:c.856T>A, XM_047441190.1:c.859T>A, XM_047441191.1:c.691T>A, XM_047441192.1:c.859T>A, XM_047441194.1:c.688T>A, XM_047441197.1:c.688T>A, XM_047441202.1:c.856T>A, NP_053733.2:p.Ser292Thr, NP_005234.1:p.Ser286Thr, NP_001156757.1:p.Ser286Thr, NP_001156758.1:p.Ser230Thr, NP_001156759.1:p.Ser286Thr, XP_005261446.1:p.Ser286Thr, XP_005261447.1:p.Ser230Thr, XP_011528297.1:p.Ser287Thr, XP_011528298.1:p.Ser287Thr, XP_011528301.1:p.Ser287Thr, XP_016884133.1:p.Ser286Thr, XP_011528299.1:p.Ser287Thr, XP_011528300.1:p.Ser287Thr, XP_016884135.1:p.Ser287Thr, XP_016884134.1:p.Ser286Thr, XP_016884136.1:p.Ser286Thr, XP_011528302.1:p.Ser287Thr, XP_016884137.1:p.Ser286Thr, XP_016884138.1:p.Ser287Thr, XP_016884139.1:p.Ser287Thr, XP_016884141.1:p.Ser287Thr, XP_016884140.1:p.Ser286Thr, XP_016884142.1:p.Ser286Thr, XP_011528303.1:p.Ser231Thr, XP_016884145.1:p.Ser286Thr, XP_016884149.1:p.Ser286Thr, XP_016884151.1:p.Ser230Thr, XP_016884143.1:p.Ser231Thr, XP_016884144.1:p.Ser230Thr, XP_016884147.1:p.Ser231Thr, XP_016884148.1:p.Ser230Thr, XP_016884152.1:p.Ser230Thr, XP_047297143.1:p.Ser287Thr, XP_047297142.1:p.Ser286Thr, XP_047297144.1:p.Ser286Thr, XP_047297145.1:p.Ser286Thr, XP_047297146.1:p.Ser287Thr, XP_047297147.1:p.Ser231Thr, XP_047297148.1:p.Ser287Thr, XP_047297150.1:p.Ser230Thr, XP_047297153.1:p.Ser230Thr, XP_047297158.1:p.Ser286Thr

                                      19.

                                      rs1457936433 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:29299694 (GRCh38)
                                        22:29695684 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:29299693:C:T
                                        Gene:
                                        EWSR1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.29299694C>T, NC_000022.10:g.29695684C>T, NG_023240.1:g.36687C>T, NM_013986.4:c.1789C>T, NM_013986.3:c.1789C>T, NM_005243.4:c.1774C>T, NM_005243.3:c.1774C>T, NM_001163285.2:c.1771C>T, NM_001163285.1:c.1771C>T, NM_001163286.2:c.1606C>T, NM_001163286.1:c.1606C>T, XM_005261389.5:c.1813C>T, XM_005261389.4:c.1813C>T, XM_005261389.3:c.1813C>T, XM_005261389.2:c.1813C>T, XM_005261389.1:c.1813C>T, XM_005261390.5:c.1645C>T, XM_005261390.4:c.1645C>T, XM_005261390.3:c.1645C>T, XM_005261390.2:c.1645C>T, XM_005261390.1:c.1645C>T, XM_011529995.4:c.1816C>T, XM_011529995.3:c.1816C>T, XM_011529995.2:c.1816C>T, XM_011529995.1:c.1816C>T, XM_011529996.4:c.1813C>T, XM_011529996.3:c.1813C>T, XM_011529996.2:c.1813C>T, XM_011529996.1:c.1813C>T, XM_011529999.4:c.1765C>T, XM_011529999.3:c.1765C>T, XM_011529999.2:c.1765C>T, XM_011529999.1:c.1765C>T, XM_011530002.4:c.1597C>T, XM_011530002.3:c.1597C>T, XM_011530002.2:c.1597C>T, XM_011530002.1:c.1597C>T, XM_017028644.3:c.1810C>T, XM_017028644.2:c.1810C>T, XM_017028644.1:c.1810C>T, XM_011529997.3:c.1777C>T, XM_011529997.2:c.1777C>T, XM_011529997.1:c.1777C>T, XM_011529998.3:c.1774C>T, XM_011529998.2:c.1774C>T, XM_011529998.1:c.1774C>T, XM_017028646.3:c.1762C>T, XM_017028646.2:c.1762C>T, XM_017028646.1:c.1762C>T, XM_017028645.3:c.1762C>T, XM_017028645.2:c.1762C>T, XM_017028645.1:c.1762C>T, XM_017028647.3:c.1759C>T, XM_017028647.2:c.1759C>T, XM_017028647.1:c.1759C>T, XM_011530000.3:c.1726C>T, XM_011530000.2:c.1726C>T, XM_011530000.1:c.1726C>T, XM_017028648.3:c.1720C>T, XM_017028648.2:c.1720C>T, XM_017028648.1:c.1720C>T, XM_017028649.3:c.1693C>T, XM_017028649.2:c.1693C>T, XM_017028649.1:c.1693C>T, XM_017028650.3:c.1654C>T, XM_017028650.2:c.1654C>T, XM_017028650.1:c.1654C>T, XM_017028652.3:c.1651C>T, XM_017028652.2:c.1651C>T, XM_017028652.1:c.1651C>T, XM_017028651.3:c.1651C>T, XM_017028651.2:c.1651C>T, XM_017028651.1:c.1651C>T, XM_017028653.3:c.1648C>T, XM_017028653.2:c.1648C>T, XM_017028653.1:c.1648C>T, XM_011530001.3:c.1648C>T, XM_011530001.2:c.1648C>T, XM_011530001.1:c.1648C>T, XM_017028656.3:c.1639C>T, XM_017028656.2:c.1639C>T, XM_017028656.1:c.1639C>T, XM_017028660.3:c.1597C>T, XM_017028660.2:c.1597C>T, XM_017028660.1:c.1597C>T, XM_017028662.3:c.1552C>T, XM_017028662.2:c.1552C>T, XM_017028662.1:c.1552C>T, XM_017028654.2:c.1645C>T, XM_017028654.1:c.1645C>T, XM_017028655.2:c.1642C>T, XM_017028655.1:c.1642C>T, XM_017028658.2:c.1606C>T, XM_017028658.1:c.1606C>T, XM_017028659.2:c.1603C>T, XM_017028659.1:c.1603C>T, XM_024452180.2:c.1546C>T, XM_024452180.1:c.1546C>T, XM_024452181.2:c.1504C>T, XM_024452181.1:c.1504C>T, XM_017028663.2:c.1480C>T, XM_017028663.1:c.1480C>T, XM_047441187.1:c.1723C>T, XM_047441186.1:c.1723C>T, XM_047441188.1:c.1690C>T, XM_047441189.1:c.1687C>T, XM_047441190.1:c.1642C>T, XM_047441191.1:c.1609C>T, XM_047441192.1:c.1603C>T, XM_047441194.1:c.1594C>T, XM_047441193.1:c.1594C>T, XM_047441195.1:c.1558C>T, XM_047441197.1:c.1555C>T, XM_047441196.1:c.1555C>T, XM_047441198.1:c.1543C>T, XM_047441199.1:c.1435C>T, XM_047441200.1:c.1432C>T, XM_047441201.1:c.1387C>T, NP_053733.2:p.Arg597Cys, NP_005234.1:p.Arg592Cys, NP_001156757.1:p.Arg591Cys, NP_001156758.1:p.Arg536Cys, XP_005261446.1:p.Arg605Cys, XP_005261447.1:p.Arg549Cys, XP_011528297.1:p.Arg606Cys, XP_011528298.1:p.Arg605Cys, XP_011528301.1:p.Arg589Cys, XP_011528304.1:p.Arg533Cys, XP_016884133.1:p.Arg604Cys, XP_011528299.1:p.Arg593Cys, XP_011528300.1:p.Arg592Cys, XP_016884135.1:p.Arg588Cys, XP_016884134.1:p.Arg588Cys, XP_016884136.1:p.Arg587Cys, XP_011528302.1:p.Arg576Cys, XP_016884137.1:p.Arg574Cys, XP_016884138.1:p.Arg565Cys, XP_016884139.1:p.Arg552Cys, XP_016884141.1:p.Arg551Cys, XP_016884140.1:p.Arg551Cys, XP_016884142.1:p.Arg550Cys, XP_011528303.1:p.Arg550Cys, XP_016884145.1:p.Arg547Cys, XP_016884149.1:p.Arg533Cys, XP_016884151.1:p.Arg518Cys, XP_016884143.1:p.Arg549Cys, XP_016884144.1:p.Arg548Cys, XP_016884147.1:p.Arg536Cys, XP_016884148.1:p.Arg535Cys, XP_024307948.1:p.Arg516Cys, XP_024307949.1:p.Arg502Cys, XP_016884152.1:p.Arg494Cys, XP_047297143.1:p.Arg575Cys, XP_047297142.1:p.Arg575Cys, XP_047297144.1:p.Arg564Cys, XP_047297145.1:p.Arg563Cys, XP_047297146.1:p.Arg548Cys, XP_047297147.1:p.Arg537Cys, XP_047297148.1:p.Arg535Cys, XP_047297150.1:p.Arg532Cys, XP_047297149.1:p.Arg532Cys, XP_047297151.1:p.Arg520Cys, XP_047297153.1:p.Arg519Cys, XP_047297152.1:p.Arg519Cys, XP_047297154.1:p.Arg515Cys, XP_047297155.1:p.Arg479Cys, XP_047297156.1:p.Arg478Cys, XP_047297157.1:p.Arg463Cys

                                        20.

                                        rs1457532142 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:29282495 (GRCh38)
                                          22:29678484 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:29282494:C:T
                                          Gene:
                                          EWSR1 (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.29282495C>T, NC_000022.10:g.29678484C>T, NG_023240.1:g.19487C>T, NM_013986.4:c.537C>T, NM_013986.3:c.537C>T, NM_005243.4:c.519C>T, NM_005243.3:c.519C>T, NM_001163285.2:c.519C>T, NM_001163285.1:c.519C>T, NM_001163287.2:c.519C>T, NM_001163287.1:c.519C>T, XM_005261389.5:c.519C>T, XM_005261389.4:c.519C>T, XM_005261389.3:c.519C>T, XM_005261389.2:c.519C>T, XM_005261389.1:c.519C>T, XM_011529995.4:c.522C>T, XM_011529995.3:c.522C>T, XM_011529995.2:c.522C>T, XM_011529995.1:c.522C>T, XM_011529996.4:c.522C>T, XM_011529996.3:c.522C>T, XM_011529996.2:c.522C>T, XM_011529996.1:c.522C>T, XM_011529999.4:c.522C>T, XM_011529999.3:c.522C>T, XM_011529999.2:c.522C>T, XM_011529999.1:c.522C>T, XM_011530002.4:c.522C>T, XM_011530002.3:c.522C>T, XM_011530002.2:c.522C>T, XM_011530002.1:c.522C>T, XM_017028644.3:c.519C>T, XM_017028644.2:c.519C>T, XM_017028644.1:c.519C>T, XM_011529997.3:c.522C>T, XM_011529997.2:c.522C>T, XM_011529997.1:c.522C>T, XM_011529998.3:c.522C>T, XM_011529998.2:c.522C>T, XM_011529998.1:c.522C>T, XM_017028646.3:c.522C>T, XM_017028646.2:c.522C>T, XM_017028646.1:c.522C>T, XM_017028645.3:c.519C>T, XM_017028645.2:c.519C>T, XM_017028645.1:c.519C>T, XM_017028647.3:c.519C>T, XM_017028647.2:c.519C>T, XM_017028647.1:c.519C>T, XM_011530000.3:c.522C>T, XM_011530000.2:c.522C>T, XM_011530000.1:c.522C>T, XM_017028648.3:c.519C>T, XM_017028648.2:c.519C>T, XM_017028648.1:c.519C>T, XM_017028649.3:c.522C>T, XM_017028649.2:c.522C>T, XM_017028649.1:c.522C>T, XM_017028650.3:c.522C>T, XM_017028650.2:c.522C>T, XM_017028650.1:c.522C>T, XM_017028652.3:c.522C>T, XM_017028652.2:c.522C>T, XM_017028652.1:c.522C>T, XM_017028651.3:c.519C>T, XM_017028651.2:c.519C>T, XM_017028651.1:c.519C>T, XM_017028653.3:c.519C>T, XM_017028653.2:c.519C>T, XM_017028653.1:c.519C>T, XM_017028656.3:c.519C>T, XM_017028656.2:c.519C>T, XM_017028656.1:c.519C>T, XM_017028660.3:c.519C>T, XM_017028660.2:c.519C>T, XM_017028660.1:c.519C>T, XM_024452180.2:c.522C>T, XM_024452180.1:c.522C>T, XM_024452181.2:c.519C>T, XM_024452181.1:c.519C>T, XM_047441187.1:c.522C>T, XM_047441186.1:c.519C>T, XM_047441188.1:c.519C>T, XM_047441189.1:c.519C>T, XM_047441190.1:c.522C>T, XM_047441192.1:c.522C>T, XM_047441193.1:c.519C>T, XM_047441195.1:c.522C>T, XM_047441196.1:c.519C>T, XM_047441198.1:c.519C>T, XM_047441199.1:c.522C>T, XM_047441200.1:c.519C>T, XM_047441202.1:c.519C>T

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