12-31236826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236826
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236826
    reference: chr 12
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.224G>A
  hgvsp: ENSP00000445568.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.224G>A
  hgvsp: ENSP00000251758.5:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.146G>A
  hgvsp: ENSP00000406457.2:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.224G>A
  hgvsp: ENSP00000309965.5:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.224G>A
  hgvsp: ENSP00000441425.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.224G>A
  hgvsp: ENSP00000384703.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.332G>A
  hgvsp: ENSP00000440171.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.224G>A
  hgvsp: ENSP00000407646.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.146G>A
  hgvsp: ENSP00000443578.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.98G>A
  hgvsp: ENSP00000473610.1:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.224G>A
  hgvsp: ENSP00000442466.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-75G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.224G>A
  hgvsp: ENSP00000443426.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.224G>A
  hgvsp: ENSP00000440402.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.146G>A
  hgvsp: ENSP00000228264.6:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.418G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.224G>A
  hgvsp: ENSP00000406799.2:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.429G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+16G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg75Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-31236828-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236828
    reference: chr 12
allele count: 4
allele frequency: 3.355141754739137e-5
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.420C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.148C>A
  hgvsp: ENSP00000228264.6:p.Leu50Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.148C>A
  hgvsp: ENSP00000406457.2:p.Leu50Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+18C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.226C>A
  hgvsp: ENSP00000441425.1:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.334C>A
  hgvsp: ENSP00000440171.1:p.Leu112Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.100C>A
  hgvsp: ENSP00000473610.1:p.Leu34Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.226C>A
  hgvsp: ENSP00000406799.2:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.148C>A
  hgvsp: ENSP00000443578.1:p.Leu50Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.226C>A
  hgvsp: ENSP00000384703.2:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.226C>A
  hgvsp: ENSP00000440402.1:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.226C>A
  hgvsp: ENSP00000442466.1:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.226C>A
  hgvsp: ENSP00000309965.5:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.226C>A
  hgvsp: ENSP00000445568.1:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.226C>A
  hgvsp: ENSP00000407646.2:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.226C>A
  hgvsp: ENSP00000443426.1:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-73C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.431C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.226C>A
  hgvsp: ENSP00000251758.5:p.Leu76Ile
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu76Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-31236835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236835
    reference: chr 12
allele count: 11
allele frequency: 9.227568619555735e-5
allele num: 119208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.233A>G
  hgvsp: ENSP00000309965.5:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.107A>G
  hgvsp: ENSP00000473610.1:p.Glu36Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.155A>G
  hgvsp: ENSP00000406457.2:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.233A>G
  hgvsp: ENSP00000384703.2:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.155A>G
  hgvsp: ENSP00000228264.6:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.233A>G
  hgvsp: ENSP00000407646.2:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.233A>G
  hgvsp: ENSP00000443426.1:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.155A>G
  hgvsp: ENSP00000443578.1:p.Glu52Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.233A>G
  hgvsp: ENSP00000445568.1:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.233A>G
  hgvsp: ENSP00000406799.2:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.341A>G
  hgvsp: ENSP00000440171.1:p.Glu114Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.233A>G
  hgvsp: ENSP00000251758.5:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.233A>G
  hgvsp: ENSP00000441425.1:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.233A>G
  hgvsp: ENSP00000442466.1:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.233A>G
  hgvsp: ENSP00000440402.1:p.Glu78Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.427A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.438A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-66A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+25A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu78Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-31236849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236849
    reference: chr 12
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.247C>T
  hgvsp: ENSP00000440402.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.247C>T
  hgvsp: ENSP00000309965.5:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.452C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.247C>T
  hgvsp: ENSP00000445568.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.355C>T
  hgvsp: ENSP00000440171.1:p.Pro119Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.247C>T
  hgvsp: ENSP00000443426.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+39C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.247C>T
  hgvsp: ENSP00000384703.2:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.169C>T
  hgvsp: ENSP00000406457.2:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.247C>T
  hgvsp: ENSP00000407646.2:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-52C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.169C>T
  hgvsp: ENSP00000228264.6:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.247C>T
  hgvsp: ENSP00000441425.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.121C>T
  hgvsp: ENSP00000473610.1:p.Pro41Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.441C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.169C>T
  hgvsp: ENSP00000443578.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.247C>T
  hgvsp: ENSP00000251758.5:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.247C>T
  hgvsp: ENSP00000442466.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.247C>T
  hgvsp: ENSP00000406799.2:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro83Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-31236853-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236853
    reference: chr 12
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.445T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.251T>A
  hgvsp: ENSP00000406799.2:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.251T>A
  hgvsp: ENSP00000251758.5:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.125T>A
  hgvsp: ENSP00000473610.1:p.Leu42Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.251T>A
  hgvsp: ENSP00000445568.1:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.251T>A
  hgvsp: ENSP00000443426.1:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.251T>A
  hgvsp: ENSP00000440402.1:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.251T>A
  hgvsp: ENSP00000407646.2:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+43T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.173T>A
  hgvsp: ENSP00000443578.1:p.Leu58Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.251T>A
  hgvsp: ENSP00000442466.1:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.359T>A
  hgvsp: ENSP00000440171.1:p.Leu120Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.251T>A
  hgvsp: ENSP00000441425.1:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.173T>A
  hgvsp: ENSP00000406457.2:p.Leu58Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.251T>A
  hgvsp: ENSP00000309965.5:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.456T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-48T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.173T>A
  hgvsp: ENSP00000228264.6:p.Leu58Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.251T>A
  hgvsp: ENSP00000384703.2:p.Leu84Ter
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu84Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-31236856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236856
    reference: chr 12
allele count: 658
allele frequency: 5.439185279481541e-3
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.254A>G
  hgvsp: ENSP00000406799.2:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.254A>G
  hgvsp: ENSP00000440402.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.254A>G
  hgvsp: ENSP00000251758.5:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.254A>G
  hgvsp: ENSP00000445568.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.254A>G
  hgvsp: ENSP00000441425.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-45A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.176A>G
  hgvsp: ENSP00000406457.2:p.His59Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.128A>G
  hgvsp: ENSP00000473610.1:p.His43Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.176A>G
  hgvsp: ENSP00000228264.6:p.His59Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.176A>G
  hgvsp: ENSP00000443578.1:p.His59Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.362A>G
  hgvsp: ENSP00000440171.1:p.His121Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+46A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.254A>G
  hgvsp: ENSP00000443426.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.254A>G
  hgvsp: ENSP00000309965.5:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.254A>G
  hgvsp: ENSP00000384703.2:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.448A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.459A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.254A>G
  hgvsp: ENSP00000407646.2:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.254A>G
  hgvsp: ENSP00000442466.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His85Arg
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-31236856-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236856
    reference: chr 12
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.254A>T
  hgvsp: ENSP00000407646.2:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.254A>T
  hgvsp: ENSP00000440402.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.448A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.128A>T
  hgvsp: ENSP00000473610.1:p.His43Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.254A>T
  hgvsp: ENSP00000384703.2:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.176A>T
  hgvsp: ENSP00000406457.2:p.His59Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-45A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.254A>T
  hgvsp: ENSP00000309965.5:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.254A>T
  hgvsp: ENSP00000441425.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.254A>T
  hgvsp: ENSP00000251758.5:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.254A>T
  hgvsp: ENSP00000445568.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.176A>T
  hgvsp: ENSP00000228264.6:p.His59Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.254A>T
  hgvsp: ENSP00000406799.2:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.362A>T
  hgvsp: ENSP00000440171.1:p.His121Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.254A>T
  hgvsp: ENSP00000443426.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.176A>T
  hgvsp: ENSP00000443578.1:p.His59Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+46A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.459A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.254A>T
  hgvsp: ENSP00000442466.1:p.His85Leu
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His85Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

12-31236859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236859
    reference: chr 12
allele count: 4
allele frequency: 3.305074942574323e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.451A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.179A>G
  hgvsp: ENSP00000406457.2:p.Asp60Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.462A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.257A>G
  hgvsp: ENSP00000445568.1:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.131A>G
  hgvsp: ENSP00000473610.1:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.257A>G
  hgvsp: ENSP00000251758.5:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.257A>G
  hgvsp: ENSP00000441425.1:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.257A>G
  hgvsp: ENSP00000442466.1:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.257A>G
  hgvsp: ENSP00000384703.2:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.257A>G
  hgvsp: ENSP00000309965.5:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.257A>G
  hgvsp: ENSP00000407646.2:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.179A>G
  hgvsp: ENSP00000228264.6:p.Asp60Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.179A>G
  hgvsp: ENSP00000443578.1:p.Asp60Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.257A>G
  hgvsp: ENSP00000443426.1:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.365A>G
  hgvsp: ENSP00000440171.1:p.Asp122Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-42A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.257A>G
  hgvsp: ENSP00000406799.2:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.257A>G
  hgvsp: ENSP00000440402.1:p.Asp86Gly
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp86Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-31236865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236865
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236865
    reference: chr 12
allele count: 2
allele frequency: 1.651254953764861e-5
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.185A>G
  hgvsp: ENSP00000228264.6:p.Lys62Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.263A>G
  hgvsp: ENSP00000251758.5:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.263A>G
  hgvsp: ENSP00000406799.2:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.263A>G
  hgvsp: ENSP00000443426.1:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.371A>G
  hgvsp: ENSP00000440171.1:p.Lys124Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-36A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.263A>G
  hgvsp: ENSP00000442466.1:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.185A>G
  hgvsp: ENSP00000406457.2:p.Lys62Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.457A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.263A>G
  hgvsp: ENSP00000440402.1:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.137A>G
  hgvsp: ENSP00000473610.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.263A>G
  hgvsp: ENSP00000407646.2:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.263A>G
  hgvsp: ENSP00000309965.5:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.263A>G
  hgvsp: ENSP00000441425.1:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+55A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.263A>G
  hgvsp: ENSP00000384703.2:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.468A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.263A>G
  hgvsp: ENSP00000445568.1:p.Lys88Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.185A>G
  hgvsp: ENSP00000443578.1:p.Lys62Arg
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys88Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-31236896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236896
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236896
    reference: chr 12
allele count: 43
allele frequency: 3.547796240986123e-4
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.168C>T
  hgvsp: ENST00000544652.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.294C>T
  hgvsp: ENST00000542244.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.216C>T
  hgvsp: ENST00000415475.2:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.499C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.294C>T
  hgvsp: ENST00000542129.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.294C>T
  hgvsp: ENST00000438391.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.294C>T
  hgvsp: ENST00000435753.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.402C>T
  hgvsp: ENST00000535317.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-5C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.294C>T
  hgvsp: ENST00000407793.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.294C>T
  hgvsp: ENST00000350437.4:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.294C>T
  hgvsp: ENST00000542838.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.294C>T
  hgvsp: ENST00000539049.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.488C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.294C>T
  hgvsp: ENST00000251758.5:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.294C>T
  hgvsp: ENST00000545668.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+86C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.216C>T
  hgvsp: ENST00000228264.6:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.216C>T
  hgvsp: ENST00000540935.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.145-5C>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

12-31236897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236897
    reference: chr 12
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.295G>A
  hgvsp: ENSP00000251758.5:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.295G>A
  hgvsp: ENSP00000384703.2:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.295G>A
  hgvsp: ENSP00000442466.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.295G>A
  hgvsp: ENSP00000440402.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.295G>A
  hgvsp: ENSP00000443426.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.295G>A
  hgvsp: ENSP00000407646.2:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.217G>A
  hgvsp: ENSP00000228264.6:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.217G>A
  hgvsp: ENSP00000406457.2:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.295G>A
  hgvsp: ENSP00000406799.2:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.295G>A
  hgvsp: ENSP00000441425.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.169G>A
  hgvsp: ENSP00000473610.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.295G>A
  hgvsp: ENSP00000445568.1:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.295G>A
  hgvsp: ENSP00000309965.5:p.Glu99Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.217G>A
  hgvsp: ENSP00000443578.1:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+87G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.500G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-4G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.489G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.403G>A
  hgvsp: ENSP00000440171.1:p.Glu135Lys
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu99Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

12-31236897-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236897
    reference: chr 12
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.295G>T
  hgvsp: ENSP00000445568.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.217G>T
  hgvsp: ENSP00000406457.2:p.Glu73Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.169G>T
  hgvsp: ENSP00000473610.1:p.Glu57Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-4G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.295G>T
  hgvsp: ENSP00000406799.2:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.489G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.217G>T
  hgvsp: ENSP00000443578.1:p.Glu73Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.217G>T
  hgvsp: ENSP00000228264.6:p.Glu73Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.500G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.295G>T
  hgvsp: ENSP00000441425.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.295G>T
  hgvsp: ENSP00000407646.2:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.295G>T
  hgvsp: ENSP00000309965.5:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.403G>T
  hgvsp: ENSP00000440171.1:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.295G>T
  hgvsp: ENSP00000442466.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.295G>T
  hgvsp: ENSP00000440402.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.295G>T
  hgvsp: ENSP00000443426.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+87G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.295G>T
  hgvsp: ENSP00000384703.2:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.295G>T
  hgvsp: ENSP00000251758.5:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu99Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-31236898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236898
    reference: chr 12
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.296A>G
  hgvsp: ENSP00000384703.2:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.296A>G
  hgvsp: ENSP00000309965.5:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+88A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.296A>G
  hgvsp: ENSP00000406799.2:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.296A>G
  hgvsp: ENSP00000442466.1:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.296A>G
  hgvsp: ENSP00000443426.1:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.218A>G
  hgvsp: ENSP00000443578.1:p.Glu73Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.170A>G
  hgvsp: ENSP00000473610.1:p.Glu57Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.490A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.296A>G
  hgvsp: ENSP00000445568.1:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.218A>G
  hgvsp: ENSP00000406457.2:p.Glu73Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.296A>G
  hgvsp: ENSP00000407646.2:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.296A>G
  hgvsp: ENSP00000441425.1:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.296A>G
  hgvsp: ENSP00000251758.5:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.296A>G
  hgvsp: ENSP00000440402.1:p.Glu99Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.145-3A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.404A>G
  hgvsp: ENSP00000440171.1:p.Glu135Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.218A>G
  hgvsp: ENSP00000228264.6:p.Glu73Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.501A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu99Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-31236907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236907
    reference: chr 12
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.305C>T
  hgvsp: ENSP00000384703.2:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.305C>T
  hgvsp: ENSP00000443426.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.227C>T
  hgvsp: ENSP00000228264.6:p.Ala76Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.305C>T
  hgvsp: ENSP00000309965.5:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.227C>T
  hgvsp: ENSP00000406457.2:p.Ala76Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.151C>T
  hgvsp: ENSP00000439298.1:p.Gln51Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.305C>T
  hgvsp: ENSP00000442466.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.305C>T
  hgvsp: ENSP00000441425.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.179C>T
  hgvsp: ENSP00000473610.1:p.Ala60Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+97C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.227C>T
  hgvsp: ENSP00000443578.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.305C>T
  hgvsp: ENSP00000407646.2:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.305C>T
  hgvsp: ENSP00000406799.2:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.305C>T
  hgvsp: ENSP00000251758.5:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.499C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.305C>T
  hgvsp: ENSP00000445568.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.413C>T
  hgvsp: ENSP00000440171.1:p.Ala138Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.305C>T
  hgvsp: ENSP00000440402.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.510C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln51Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-31236917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236917
    reference: chr 12
allele count: 103
allele frequency: 8.519437551695616e-4
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.315G>A
  hgvsp: ENST00000407793.2:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.237G>A
  hgvsp: ENST00000540935.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.315G>A
  hgvsp: ENST00000542838.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.520G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.189G>A
  hgvsp: ENST00000544652.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.509G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.315G>A
  hgvsp: ENST00000350437.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.237G>A
  hgvsp: ENST00000228264.6:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.315G>A
  hgvsp: ENST00000545668.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.161G>A
  hgvsp: ENSP00000439298.1:p.Arg54Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.315G>A
  hgvsp: ENST00000542244.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.315G>A
  hgvsp: ENST00000539049.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.315G>A
  hgvsp: ENST00000435753.2:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.237G>A
  hgvsp: ENST00000415475.2:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+107G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.423G>A
  hgvsp: ENST00000535317.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.315G>A
  hgvsp: ENST00000438391.2:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.315G>A
  hgvsp: ENST00000251758.5:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.315G>A
  hgvsp: ENST00000542129.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg54Gln
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-31236921-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236921
    reference: chr 12
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.241C>G
  hgvsp: ENSP00000228264.6:p.Pro81Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.524C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.319C>G
  hgvsp: ENSP00000441425.1:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.193C>G
  hgvsp: ENSP00000473610.1:p.Pro65Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.319C>G
  hgvsp: ENSP00000442466.1:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.319C>G
  hgvsp: ENSP00000406799.2:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.319C>G
  hgvsp: ENSP00000384703.2:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.513C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.319C>G
  hgvsp: ENSP00000309965.5:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.319C>G
  hgvsp: ENSP00000407646.2:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.319C>G
  hgvsp: ENSP00000443426.1:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.165C>G
  hgvsp: ENST00000543756.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.319C>G
  hgvsp: ENSP00000445568.1:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+111C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.241C>G
  hgvsp: ENSP00000443578.1:p.Pro81Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.427C>G
  hgvsp: ENSP00000440171.1:p.Pro143Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.319C>G
  hgvsp: ENSP00000440402.1:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.319C>G
  hgvsp: ENSP00000251758.5:p.Pro107Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.241C>G
  hgvsp: ENSP00000406457.2:p.Pro81Ala
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro107Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

12-31236934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236934
    reference: chr 12
allele count: 25
allele frequency: 2.08073241781107e-4
allele num: 120150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.206C>T
  hgvsp: ENSP00000473610.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.254C>T
  hgvsp: ENSP00000443578.1:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.332C>T
  hgvsp: ENSP00000406799.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+124C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.332C>T
  hgvsp: ENSP00000445568.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.332C>T
  hgvsp: ENSP00000441425.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.332C>T
  hgvsp: ENSP00000407646.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.254C>T
  hgvsp: ENSP00000406457.2:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.332C>T
  hgvsp: ENSP00000309965.5:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.526C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.332C>T
  hgvsp: ENSP00000251758.5:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.537C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.440C>T
  hgvsp: ENSP00000440171.1:p.Pro147Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.332C>T
  hgvsp: ENSP00000443426.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.332C>T
  hgvsp: ENSP00000442466.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.178C>T
  hgvsp: ENSP00000439298.1:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.332C>T
  hgvsp: ENSP00000440402.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.332C>T
  hgvsp: ENSP00000384703.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.254C>T
  hgvsp: ENSP00000228264.6:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro111Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

12-31236936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236936
    reference: chr 12
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.539G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.208G>C
  hgvsp: ENSP00000473610.1:p.Ala70Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.180G>C
  hgvsp: ENST00000543756.1:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.334G>C
  hgvsp: ENSP00000384703.2:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.256G>C
  hgvsp: ENSP00000228264.6:p.Ala86Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.256G>C
  hgvsp: ENSP00000443578.1:p.Ala86Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+126G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.334G>C
  hgvsp: ENSP00000441425.1:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.334G>C
  hgvsp: ENSP00000407646.2:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.334G>C
  hgvsp: ENSP00000440402.1:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.334G>C
  hgvsp: ENSP00000443426.1:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.334G>C
  hgvsp: ENSP00000445568.1:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.334G>C
  hgvsp: ENSP00000309965.5:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.334G>C
  hgvsp: ENSP00000251758.5:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.442G>C
  hgvsp: ENSP00000440171.1:p.Ala148Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.256G>C
  hgvsp: ENSP00000406457.2:p.Ala86Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.334G>C
  hgvsp: ENSP00000442466.1:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.528G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.334G>C
  hgvsp: ENSP00000406799.2:p.Ala112Pro
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala112Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-31236940-G-GGGTTACTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236949
    reference: chr 12
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: GGGTTACTCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.262_270dupGTTACTCAG
  hgvsp: ENSP00000443578.1:p.Val88_Gln90dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.214_222dupGTTACTCAG
  hgvsp: ENSP00000473610.1:p.Val72_Gln74dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000309965.5:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000251758.5:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.448_456dupGTTACTCAG
  hgvsp: ENSP00000440171.1:p.Val150_Gln152dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000440402.1:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000445568.1:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.534_542dupGTTACTCAG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000443426.1:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000442466.1:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000407646.2:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000441425.1:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.262_270dupGTTACTCAG
  hgvsp: ENSP00000406457.2:p.Val88_Gln90dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.186_194dupGTTACTCAG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000384703.2:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.545_553dupGTTACTCAG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.262_270dupGTTACTCAG
  hgvsp: ENSP00000228264.6:p.Val88_Gln90dup
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.340_348dupGTTACTCAG
  hgvsp: ENSP00000406799.2:p.Val114_Gln116dup
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val114_Gln116dup
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-31236949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236949
    reference: chr 12
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+139A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.269A>C
  hgvsp: ENSP00000443578.1:p.Gln90Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.347A>C
  hgvsp: ENSP00000443426.1:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.347A>C
  hgvsp: ENSP00000440402.1:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.347A>C
  hgvsp: ENSP00000445568.1:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.347A>C
  hgvsp: ENSP00000309965.5:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.347A>C
  hgvsp: ENSP00000251758.5:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.269A>C
  hgvsp: ENSP00000406457.2:p.Gln90Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.347A>C
  hgvsp: ENSP00000406799.2:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.347A>C
  hgvsp: ENSP00000441425.1:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.455A>C
  hgvsp: ENSP00000440171.1:p.Gln152Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.269A>C
  hgvsp: ENSP00000228264.6:p.Gln90Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.347A>C
  hgvsp: ENSP00000442466.1:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.347A>C
  hgvsp: ENSP00000384703.2:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.347A>C
  hgvsp: ENSP00000407646.2:p.Gln116Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.221A>C
  hgvsp: ENSP00000473610.1:p.Gln74Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.193A>C
  hgvsp: ENSP00000439298.1:p.Ser65Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.541A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.552A>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln116Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-31236958-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236958
    reference: chr 12
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.550A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.356A>T
  hgvsp: ENSP00000443426.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.356A>T
  hgvsp: ENSP00000440402.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.356A>T
  hgvsp: ENSP00000441425.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.356A>T
  hgvsp: ENSP00000406799.2:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.278A>T
  hgvsp: ENSP00000228264.6:p.Gln93Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.356A>T
  hgvsp: ENSP00000384703.2:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.278A>T
  hgvsp: ENSP00000406457.2:p.Gln93Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.202A>T
  hgvsp: ENSP00000439298.1:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.356A>T
  hgvsp: ENSP00000309965.5:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.356A>T
  hgvsp: ENSP00000445568.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.356A>T
  hgvsp: ENSP00000407646.2:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.278A>T
  hgvsp: ENSP00000443578.1:p.Gln93Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.356A>T
  hgvsp: ENSP00000251758.5:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.356A>T
  hgvsp: ENSP00000442466.1:p.Gln119Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+148A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.561A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.464A>T
  hgvsp: ENSP00000440171.1:p.Gln155Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.230A>T
  hgvsp: ENSP00000473610.1:p.Gln77Leu
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg68Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-31236968-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236968
    reference: chr 12
allele count: 3
allele frequency: 2.485665992774998e-5
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.366A>C
  hgvsp: ENSP00000440402.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.366A>C
  hgvsp: ENSP00000442466.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.571A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.288A>C
  hgvsp: ENSP00000443578.1:p.Glu96Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.366A>C
  hgvsp: ENSP00000445568.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.366A>C
  hgvsp: ENSP00000441425.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.366A>C
  hgvsp: ENSP00000309965.5:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.240A>C
  hgvsp: ENSP00000473610.1:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.288A>C
  hgvsp: ENSP00000228264.6:p.Glu96Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.366A>C
  hgvsp: ENSP00000406799.2:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.212A>C
  hgvsp: ENSP00000439298.1:p.Lys71Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.366A>C
  hgvsp: ENSP00000407646.2:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.366A>C
  hgvsp: ENSP00000384703.2:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.560A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.288A>C
  hgvsp: ENSP00000406457.2:p.Glu96Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.474A>C
  hgvsp: ENSP00000440171.1:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+158A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.366A>C
  hgvsp: ENSP00000443426.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.366A>C
  hgvsp: ENSP00000251758.5:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu122Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

12-31236973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236973
    reference: chr 12
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.371G>A
  hgvsp: ENSP00000309965.5:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.565G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.479G>A
  hgvsp: ENSP00000440171.1:p.Arg160Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.293G>A
  hgvsp: ENSP00000406457.2:p.Arg98Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.293G>A
  hgvsp: ENSP00000228264.6:p.Arg98Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.371G>A
  hgvsp: ENSP00000441425.1:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.371G>A
  hgvsp: ENSP00000407646.2:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.245G>A
  hgvsp: ENSP00000473610.1:p.Arg82Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.371G>A
  hgvsp: ENSP00000384703.2:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.371G>A
  hgvsp: ENSP00000406799.2:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.371G>A
  hgvsp: ENSP00000251758.5:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.576G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.371G>A
  hgvsp: ENSP00000445568.1:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.371G>A
  hgvsp: ENSP00000443426.1:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.371G>A
  hgvsp: ENSP00000440402.1:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.371G>A
  hgvsp: ENSP00000442466.1:p.Arg124Lys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.217G>A
  hgvsp: ENSP00000439298.1:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+163G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.293G>A
  hgvsp: ENSP00000443578.1:p.Arg98Lys
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg124Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-31236976-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236976
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236976
    reference: chr 12
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.482A>T
  hgvsp: ENSP00000440171.1:p.Asp161Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.296A>T
  hgvsp: ENSP00000228264.6:p.Asp99Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.296A>T
  hgvsp: ENSP00000406457.2:p.Asp99Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.374A>T
  hgvsp: ENSP00000384703.2:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.220A>T
  hgvsp: ENSP00000439298.1:p.Thr74Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.374A>T
  hgvsp: ENSP00000406799.2:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+166A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.568A>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.374A>T
  hgvsp: ENSP00000443426.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.374A>T
  hgvsp: ENSP00000309965.5:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.374A>T
  hgvsp: ENSP00000407646.2:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.374A>T
  hgvsp: ENSP00000442466.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.374A>T
  hgvsp: ENSP00000445568.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.374A>T
  hgvsp: ENSP00000441425.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.296A>T
  hgvsp: ENSP00000443578.1:p.Asp99Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.374A>T
  hgvsp: ENSP00000440402.1:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.374A>T
  hgvsp: ENSP00000251758.5:p.Asp125Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.248A>T
  hgvsp: ENSP00000473610.1:p.Asp83Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.579A>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp125Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-31236982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236982
    reference: chr 12
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.380T>C
  hgvsp: ENSP00000251758.5:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.380T>C
  hgvsp: ENSP00000407646.2:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.380T>C
  hgvsp: ENSP00000442466.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+172T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.380T>C
  hgvsp: ENSP00000384703.2:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.380T>C
  hgvsp: ENSP00000443426.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.380T>C
  hgvsp: ENSP00000441425.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.380T>C
  hgvsp: ENSP00000445568.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.380T>C
  hgvsp: ENSP00000406799.2:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.585T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.302T>C
  hgvsp: ENSP00000443578.1:p.Val101Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.380T>C
  hgvsp: ENSP00000309965.5:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.254T>C
  hgvsp: ENSP00000473610.1:p.Val85Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.302T>C
  hgvsp: ENSP00000228264.6:p.Val101Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.226T>C
  hgvsp: ENSP00000439298.1:p.Trp76Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.380T>C
  hgvsp: ENSP00000440402.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.302T>C
  hgvsp: ENSP00000406457.2:p.Val101Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.488T>C
  hgvsp: ENSP00000440171.1:p.Val163Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.574T>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val127Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-31236984-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236984
    reference: chr 12
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.382G>T
  hgvsp: ENSP00000407646.2:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.382G>T
  hgvsp: ENSP00000406799.2:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.382G>T
  hgvsp: ENSP00000440402.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.304G>T
  hgvsp: ENSP00000443578.1:p.Asp102Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.304G>T
  hgvsp: ENSP00000406457.2:p.Asp102Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.382G>T
  hgvsp: ENSP00000384703.2:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.304G>T
  hgvsp: ENSP00000228264.6:p.Asp102Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.382G>T
  hgvsp: ENSP00000442466.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.382G>T
  hgvsp: ENSP00000445568.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.382G>T
  hgvsp: ENSP00000309965.5:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.490G>T
  hgvsp: ENSP00000440171.1:p.Asp164Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.382G>T
  hgvsp: ENSP00000443426.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.576G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.382G>T
  hgvsp: ENSP00000251758.5:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.382G>T
  hgvsp: ENSP00000441425.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.228G>T
  hgvsp: ENSP00000439298.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.256G>T
  hgvsp: ENSP00000473610.1:p.Asp86Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.587G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+174G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp128Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-31236986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236986
    reference: chr 12
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.306C>T
  hgvsp: ENST00000415475.2:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.384C>T
  hgvsp: ENST00000438391.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.384C>T
  hgvsp: ENST00000539049.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.589C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.230C>T
  hgvsp: ENSP00000439298.1:p.Thr77Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.384C>T
  hgvsp: ENST00000545668.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.306C>T
  hgvsp: ENST00000540935.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.384C>T
  hgvsp: ENST00000407793.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.384C>T
  hgvsp: ENST00000542129.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.384C>T
  hgvsp: ENST00000542838.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.384C>T
  hgvsp: ENST00000435753.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.384C>T
  hgvsp: ENST00000542244.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.384C>T
  hgvsp: ENST00000350437.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.384C>T
  hgvsp: ENST00000251758.5:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.578C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.492C>T
  hgvsp: ENST00000535317.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.258C>T
  hgvsp: ENST00000544652.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.306C>T
  hgvsp: ENST00000228264.6:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+176C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr77Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-31236987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236987
    reference: chr 12
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+177C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.385C>T
  hgvsp: ENSP00000407646.2:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.385C>T
  hgvsp: ENSP00000406799.2:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.385C>T
  hgvsp: ENSP00000445568.1:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.385C>T
  hgvsp: ENSP00000309965.5:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.579C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.385C>T
  hgvsp: ENSP00000442466.1:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.385C>T
  hgvsp: ENSP00000441425.1:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.259C>T
  hgvsp: ENSP00000473610.1:p.Arg87Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.231C>T
  hgvsp: ENST00000543756.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.385C>T
  hgvsp: ENSP00000251758.5:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.385C>T
  hgvsp: ENSP00000384703.2:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.307C>T
  hgvsp: ENSP00000228264.6:p.Arg103Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.307C>T
  hgvsp: ENSP00000443578.1:p.Arg103Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.307C>T
  hgvsp: ENSP00000406457.2:p.Arg103Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.590C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.385C>T
  hgvsp: ENSP00000443426.1:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.385C>T
  hgvsp: ENSP00000440402.1:p.Arg129Ter
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.493C>T
  hgvsp: ENSP00000440171.1:p.Arg165Ter
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg129Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-31236988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31236988
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31236988
    reference: chr 12
allele count: 46
allele frequency: 3.809271435432849e-4
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.386G>A
  hgvsp: ENSP00000384703.2:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.386G>A
  hgvsp: ENSP00000445568.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.308G>A
  hgvsp: ENSP00000406457.2:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.386G>A
  hgvsp: ENSP00000441425.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.308G>A
  hgvsp: ENSP00000228264.6:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.494G>A
  hgvsp: ENSP00000440171.1:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.386G>A
  hgvsp: ENSP00000407646.2:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.386G>A
  hgvsp: ENSP00000442466.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.386G>A
  hgvsp: ENSP00000309965.5:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+178G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.308G>A
  hgvsp: ENSP00000443578.1:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.386G>A
  hgvsp: ENSP00000443426.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.386G>A
  hgvsp: ENSP00000406799.2:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.260G>A
  hgvsp: ENSP00000473610.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.386G>A
  hgvsp: ENSP00000251758.5:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.386G>A
  hgvsp: ENSP00000440402.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.232G>A
  hgvsp: ENSP00000439298.1:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.580G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.591G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg129Gln
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-31237002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237002
    reference: chr 12
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+192C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+7C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.393+7C>T
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

12-31237010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237010
    reference: chr 12
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+200A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+15A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+15A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-31237012-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237012
    reference: chr 12
allele count: 3
allele frequency: 2.493185293531015e-5
allele num: 120328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+202C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+17C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+17C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-31237014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237014
    reference: chr 12
allele count: 35
allele frequency: 2.916229232281824e-4
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+204G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+19G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

12-31237014-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237014
    reference: chr 12
allele count: 3
allele frequency: 2.499625056241564e-5
allele num: 120018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+204G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+19G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+19G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-31237017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237017
    reference: chr 12
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+207A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+22A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+22A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-31237021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237021
    reference: chr 12
allele count: 2
allele frequency: 1.672296732332185e-5
allele num: 119596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+211G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+26G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+26G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-31237022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237022
    reference: chr 12
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+212G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+27G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-31237026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237026
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237026
    reference: chr 12
allele count: 56813
allele frequency: 4.970516185476815e-1
allele num: 114300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+216A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+31A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 2.75e1
  variant carriers: 3689
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 1472
genotype quality: GenotypeQuality
num of homozygotes: 15122
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-31237037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237037
    reference: chr 12
allele count: 1
allele frequency: 8.399973120086016e-6
allele num: 119048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+227C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+42C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-31237038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237038
    reference: chr 12
allele count: 1
allele frequency: 8.399832003359932e-6
allele num: 119050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+228A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+43A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+43A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

12-31237039-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237039
    reference: chr 12
allele count: 2
allele frequency: 1.679430337229612e-5
allele num: 119088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+229G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.315+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.587+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.501+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*2+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.315+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.315+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.393+44G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.598+44G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-31237482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237482
    reference: chr 12
allele count: 1
allele frequency: 2.486696175461282e-5
allele num: 40214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+487C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+672C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-421C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-35C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-31237490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237490
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 41450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-413A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+495A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+680A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-27A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-27A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32528
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

12-31237494-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237494
    reference: chr 12
allele count: 1
allele frequency: 2.388573066450103e-5
allele num: 41866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+684T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+499T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-409T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-23T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-23T>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-31237505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237505
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237505
    reference: chr 12
allele count: 2
allele frequency: 4.623636027371925e-5
allele num: 43256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-398T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+695T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+510T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-31237508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237508
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 43576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+698C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-395C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+513C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-9C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-9C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-31237509-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237509
    reference: chr 12
allele count: 2
allele frequency: 4.562043795620438e-5
allele num: 43840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+514T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-394T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+699T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-8T>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.394-8T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-31237510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237510
    reference: chr 12
allele count: 8
allele frequency: 1.824817518248175e-4
allele num: 43840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.599-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*3-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.316-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+700C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.316-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+515C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.502-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.316-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.394-7C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-393C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.588-7C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.394-7C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-31237518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237518
    reference: chr 12
allele count: 39
allele frequency: 8.713526073551097e-4
allele num: 44758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.395C>T
  hgvsp: ENSP00000442466.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+708C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.395C>T
  hgvsp: ENSP00000443426.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.395C>T
  hgvsp: ENSP00000309965.5:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+523C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.395C>T
  hgvsp: ENSP00000406799.2:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.395C>T
  hgvsp: ENSP00000441425.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.503C>T
  hgvsp: ENSP00000440171.1:p.Ala168Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.395C>T
  hgvsp: ENSP00000445568.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.317C>T
  hgvsp: ENSP00000443578.1:p.Ala106Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.589C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-385C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.395C>T
  hgvsp: ENSP00000251758.5:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.317C>T
  hgvsp: ENSP00000228264.6:p.Ala106Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.317C>T
  hgvsp: ENSP00000406457.2:p.Ala106Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.600C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.395C>T
  hgvsp: ENSP00000384703.2:p.Ala132Val
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala132Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-31237519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237519
    reference: chr 12
allele count: 6
allele frequency: 1.323685139428168e-4
allele num: 45328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.318G>A
  hgvsp: ENST00000228264.6:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.396G>A
  hgvsp: ENST00000350437.4:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.396G>A
  hgvsp: ENST00000435753.2:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.396G>A
  hgvsp: ENST00000539049.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.601G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.396G>A
  hgvsp: ENST00000542838.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.396G>A
  hgvsp: ENST00000251758.5:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.396G>A
  hgvsp: ENST00000542129.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.396G>A
  hgvsp: ENST00000542244.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+709G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-384G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.396G>A
  hgvsp: ENST00000407793.2:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.318G>A
  hgvsp: ENST00000540935.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+524G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.396G>A
  hgvsp: ENST00000545668.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.504G>A
  hgvsp: ENST00000535317.1:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.396G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-31237519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237519
    reference: chr 12
allele count: 1
allele frequency: 2.206141899046947e-5
allele num: 45328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.396G>T
  hgvsp: ENST00000542838.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.396G>T
  hgvsp: ENST00000435753.2:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.504G>T
  hgvsp: ENST00000535317.1:c.504G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.396G>T
  hgvsp: ENST00000350437.4:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.396G>T
  hgvsp: ENST00000542129.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.396G>T
  hgvsp: ENST00000407793.2:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.318G>T
  hgvsp: ENST00000415475.2:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.601G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.396G>T
  hgvsp: ENST00000542244.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.396G>T
  hgvsp: ENST00000539049.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.396G>T
  hgvsp: ENST00000545668.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+709G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-384G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.590G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.318G>T
  hgvsp: ENST00000540935.1:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.318G>T
  hgvsp: ENST00000228264.6:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.396G>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-31237520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237520
    reference: chr 12
allele count: 1
allele frequency: 2.190388574933193e-5
allele num: 45654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.602G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.397G>C
  hgvsp: ENSP00000251758.5:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.397G>C
  hgvsp: ENSP00000441425.1:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*6G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-383G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.319G>C
  hgvsp: ENSP00000406457.2:p.Glu107Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+710G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.397G>C
  hgvsp: ENSP00000406799.2:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.397G>C
  hgvsp: ENSP00000309965.5:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.319G>C
  hgvsp: ENSP00000228264.6:p.Glu107Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.397G>C
  hgvsp: ENSP00000442466.1:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.591G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.397G>C
  hgvsp: ENSP00000384703.2:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.397G>C
  hgvsp: ENSP00000445568.1:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+525G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.319G>C
  hgvsp: ENSP00000443578.1:p.Glu107Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.397G>C
  hgvsp: ENSP00000443426.1:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.397G>C
  hgvsp: ENSP00000440402.1:p.Glu133Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.505G>C
  hgvsp: ENSP00000440171.1:p.Glu169Gln
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu133Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-31237522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237522
    reference: chr 12
allele count: 4
allele frequency: 8.699056152407464e-5
allele num: 45982
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.399G>A
  hgvsp: ENST00000407793.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.604G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.399G>A
  hgvsp: ENST00000350437.4:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.399G>A
  hgvsp: ENST00000542244.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.399G>A
  hgvsp: ENST00000539049.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.321G>A
  hgvsp: ENST00000228264.6:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.399G>A
  hgvsp: ENST00000542129.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+527G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.593G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.507G>A
  hgvsp: ENST00000535317.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.399G>A
  hgvsp: ENST00000542838.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.399G>A
  hgvsp: ENST00000545668.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.399G>A
  hgvsp: ENST00000251758.5:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.399G>A
  hgvsp: ENST00000435753.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.321G>A
  hgvsp: ENST00000540935.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.321G>A
  hgvsp: ENST00000415475.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+712G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-381G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu133Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-31237532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237532
    reference: chr 12
allele count: 36
allele frequency: 7.572570466975179e-4
allele num: 47540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.409A>G
  hgvsp: ENSP00000309965.5:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.409A>G
  hgvsp: ENSP00000445568.1:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.409A>G
  hgvsp: ENSP00000384703.2:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.331A>G
  hgvsp: ENSP00000406457.2:p.Arg111Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+537A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.409A>G
  hgvsp: ENSP00000251758.5:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.409A>G
  hgvsp: ENSP00000440402.1:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.614A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.331A>G
  hgvsp: ENSP00000228264.6:p.Arg111Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.409A>G
  hgvsp: ENSP00000406799.2:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.409A>G
  hgvsp: ENSP00000441425.1:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.603A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.517A>G
  hgvsp: ENSP00000440171.1:p.Arg173Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.409A>G
  hgvsp: ENSP00000442466.1:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-371A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.409A>G
  hgvsp: ENSP00000443426.1:p.Arg137Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+722A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.331A>G
  hgvsp: ENSP00000443578.1:p.Arg111Gly
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg137Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

12-31237538-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237538
    reference: chr 12
allele count: 1
allele frequency: 2.09213774634922e-5
allele num: 47798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.415C>G
  hgvsp: ENSP00000443426.1:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.415C>G
  hgvsp: ENSP00000251758.5:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.523C>G
  hgvsp: ENSP00000440171.1:p.Gln175Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.415C>G
  hgvsp: ENSP00000445568.1:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.337C>G
  hgvsp: ENSP00000228264.6:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.415C>G
  hgvsp: ENSP00000309965.5:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.415C>G
  hgvsp: ENSP00000441425.1:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-365C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+543C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*24C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.620C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.415C>G
  hgvsp: ENSP00000384703.2:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.415C>G
  hgvsp: ENSP00000440402.1:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.337C>G
  hgvsp: ENSP00000443578.1:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.337C>G
  hgvsp: ENSP00000406457.2:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.609C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.415C>G
  hgvsp: ENSP00000442466.1:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.415C>G
  hgvsp: ENSP00000406799.2:p.Gln139Glu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+728C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln139Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-31237542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237542
    reference: chr 12
allele count: 267
allele frequency: 5.539878828118516e-3
allele num: 48196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.419G>A
  hgvsp: ENSP00000441425.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.419G>A
  hgvsp: ENSP00000442466.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.341G>A
  hgvsp: ENSP00000228264.6:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.419G>A
  hgvsp: ENSP00000406799.2:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-361G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.527G>A
  hgvsp: ENSP00000440171.1:p.Arg176Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.624G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.419G>A
  hgvsp: ENSP00000384703.2:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.419G>A
  hgvsp: ENSP00000440402.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.419G>A
  hgvsp: ENSP00000309965.5:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.419G>A
  hgvsp: ENSP00000251758.5:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.341G>A
  hgvsp: ENSP00000443578.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.419G>A
  hgvsp: ENSP00000445568.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.341G>A
  hgvsp: ENSP00000406457.2:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.613G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.419G>A
  hgvsp: ENSP00000443426.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+547G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+732G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg140Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-31237545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237545
    reference: chr 12
allele count: 1
allele frequency: 2.073226354853423e-5
allele num: 48234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.422A>G
  hgvsp: ENSP00000442466.1:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.422A>G
  hgvsp: ENSP00000445568.1:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+550A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.616A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.422A>G
  hgvsp: ENSP00000443426.1:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.422A>G
  hgvsp: ENSP00000251758.5:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.422A>G
  hgvsp: ENSP00000309965.5:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.422A>G
  hgvsp: ENSP00000406799.2:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+735A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.344A>G
  hgvsp: ENSP00000406457.2:p.Glu115Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.344A>G
  hgvsp: ENSP00000228264.6:p.Glu115Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.530A>G
  hgvsp: ENSP00000440171.1:p.Glu177Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.422A>G
  hgvsp: ENSP00000384703.2:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.344A>G
  hgvsp: ENSP00000443578.1:p.Glu115Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.422A>G
  hgvsp: ENSP00000441425.1:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.627A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-358A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.422A>G
  hgvsp: ENSP00000440402.1:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu141Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-31237550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237550
    reference: chr 12
allele count: 2
allele frequency: 4.186377527525432e-5
allele num: 47774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+740C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.349C>T
  hgvsp: ENSP00000228264.6:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-353C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.427C>T
  hgvsp: ENSP00000406799.2:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.427C>T
  hgvsp: ENSP00000441425.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.349C>T
  hgvsp: ENSP00000443578.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.427C>T
  hgvsp: ENSP00000251758.5:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.632C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.621C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.427C>T
  hgvsp: ENSP00000309965.5:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.427C>T
  hgvsp: ENSP00000440402.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.427C>T
  hgvsp: ENSP00000445568.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.427C>T
  hgvsp: ENSP00000442466.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.427C>T
  hgvsp: ENSP00000384703.2:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.349C>T
  hgvsp: ENSP00000406457.2:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.427C>T
  hgvsp: ENSP00000443426.1:p.Arg143Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.535C>T
  hgvsp: ENSP00000440171.1:p.Arg179Cys
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+555C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg143Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

12-31237551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237551
    reference: chr 12
allele count: 2
allele frequency: 4.204860819106888e-5
allele num: 47564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.350G>A
  hgvsp: ENSP00000406457.2:p.Arg117His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.428G>A
  hgvsp: ENSP00000309965.5:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.428G>A
  hgvsp: ENSP00000406799.2:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.428G>A
  hgvsp: ENSP00000251758.5:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.622G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.428G>A
  hgvsp: ENSP00000443426.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+741G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+556G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.428G>A
  hgvsp: ENSP00000442466.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.428G>A
  hgvsp: ENSP00000384703.2:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.428G>A
  hgvsp: ENSP00000445568.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.633G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.536G>A
  hgvsp: ENSP00000440171.1:p.Arg179His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.428G>A
  hgvsp: ENSP00000441425.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.350G>A
  hgvsp: ENSP00000228264.6:p.Arg117His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-352G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.428G>A
  hgvsp: ENSP00000440402.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.350G>A
  hgvsp: ENSP00000443578.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg143His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-31237562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237562
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 47348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.361C>G
  hgvsp: ENSP00000228264.6:p.Leu121Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-341C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.439C>G
  hgvsp: ENSP00000251758.5:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.361C>G
  hgvsp: ENSP00000406457.2:p.Leu121Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.439C>G
  hgvsp: ENSP00000441425.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.633C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.439C>G
  hgvsp: ENSP00000443426.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.439C>G
  hgvsp: ENSP00000406799.2:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.439C>G
  hgvsp: ENSP00000384703.2:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+567C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.547C>G
  hgvsp: ENSP00000440171.1:p.Leu183Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.439C>G
  hgvsp: ENSP00000440402.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.439C>G
  hgvsp: ENSP00000442466.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.439C>G
  hgvsp: ENSP00000309965.5:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.439C>G
  hgvsp: ENSP00000445568.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.361C>G
  hgvsp: ENSP00000443578.1:p.Leu121Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+752C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*48C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.644C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu147Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-31237567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31237567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31237567
    reference: chr 12
allele count: 1
allele frequency: 2.130833155763904e-5
allele num: 46930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.444G>A
  hgvsp: ENST00000251758.5:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.444G>A
  hgvsp: ENST00000545668.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443578
  ensembl transcript: ENST00000540935
  gene symbol: DDX11
  hgvsc: ENST00000540935.1:c.366G>A
  hgvsp: ENST00000540935.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440171
  ensembl transcript: ENST00000535317
  gene symbol: DDX11
  hgvsc: ENST00000535317.1:c.552G>A
  hgvsp: ENST00000535317.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.444G>A
  hgvsp: ENST00000435753.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.444G>A
  hgvsp: ENST00000350437.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441425
  ensembl transcript: ENST00000542244
  gene symbol: DDX11
  hgvsc: ENST00000542244.1:c.444G>A
  hgvsp: ENST00000542244.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406457
  ensembl transcript: ENST00000415475
  gene symbol: DDX11
  hgvsc: ENST00000415475.2:c.366G>A
  hgvsp: ENST00000415475.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.366G>A
  hgvsp: ENST00000228264.6:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.444G>A
  hgvsp: ENST00000539049.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.649G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000473610
  ensembl transcript: ENST00000544652
  gene symbol: DDX11
  hgvsc: ENST00000544652.1:c.267+572G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.444G>A
  hgvsp: ENST00000407793.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000442466
  ensembl transcript: ENST00000542129
  gene symbol: DDX11
  hgvsc: ENST00000542129.1:c.444G>A
  hgvsp: ENST00000542129.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.49+757G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000535158
  gene symbol: DDX11
  hgvsc: ENST00000535158.1:n.638G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000439298
  ensembl transcript: ENST00000543756
  gene symbol: DDX11
  hgvsc: ENST00000543756.1:c.*53G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.444G>A
  hgvsp: ENST00000542838.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000407646
  ensembl transcript: ENST00000438391
  gene symbol: DDX11
  hgvsc: ENST00000438391.2:c.394-336G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln148Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

GenotypeDepth
all individuals: 3723
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51544
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 8.25e1
variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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South Asian
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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DP
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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DP
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QD
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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DP
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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Other
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European (Non-Finnish)
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QD
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FS
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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South Asian
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
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FS
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VQSLOD
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QD
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DP
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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DP
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MQ
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VQSLOD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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East Asian
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MQRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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DP
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VQSLOD
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MQ
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Latino
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African
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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Other
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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South Asian
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Latino
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BaseQRankSum
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DP
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MQ
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.746e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.405691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.132e0

FS
type: SiteQuality
SIO_000300: 9.266e0

MQ
type: SiteQuality
SIO_000300: 4.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeDepth
all individuals: 4126
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51450
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 4.514e1

QD
type: SiteQuality
SIO_000300: 5.99e0

DP
type: SiteQuality
SIO_000300: 1.405832e6

FS
type: SiteQuality
SIO_000300: 3.121e0

MQRankSum
type: SiteQuality
SIO_000300: -1.353e0

VQSLOD
type: SiteQuality
SIO_000300: -2.872e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeDepth
all individuals: 1913
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51437
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4127
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 112
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

FS
type: SiteQuality
SIO_000300: 3.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 4.561e1

DP
type: SiteQuality
SIO_000300: 1.405931e6

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 145
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1910
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51377
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 96
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4136
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 81
bin: 8.25e1
variant carriers: 7

GenotypeDepth
all individuals: 332
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.75e1
variant carriers: 15

GenotypeDepth
all individuals: 34
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 37
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.937984496124031e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201201201201201e-4
allele num: 66600
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -2.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQ
type: SiteQuality
SIO_000300: 4.407e1

FS
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.408307e6

QD
type: SiteQuality
SIO_000300: 9.17e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000013573
ensembl protein: ENSP00000251758
ensembl transcript: ENST00000251758
gene symbol: DDX11
hgvsc: ENST00000251758.5:c.393+7C>T
variant of: http://identifiers.org/hgnc/2736

GenotypeDepth
all individuals: 294
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1922
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50961
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 186
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4070
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.253e0

DP
type: SiteQuality
SIO_000300: 1.402526e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.121e0

VQSLOD
type: SiteQuality
SIO_000300: -3.606e0

MQ
type: SiteQuality
SIO_000300: 4.43e1

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 1.4996e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
all individuals: 3979
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1881
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50235
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 792
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -4.35e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66408
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South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Latino
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num of homozygotes: 0

Other
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DP
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InbreedingCoeff
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FS
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SIO_000300: 1.0594e1

ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: -6.05e-1

QD
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SIO_000300: 2.91e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 3.933364183248496e-3
allele num: 8644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

VQSLOD
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 3.833e1

MQRankSum
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DP
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SIO_000300: 1.376632e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11554
num of homozygotes: 0

African
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European (Non-Finnish)
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Other
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East Asian
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.011e1

DP
type: SiteQuality
SIO_000300: 1.376819e6

GenotypeDepth
all individuals: 351
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4310
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 452
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variant carriers: 0

GenotypeDepth
all individuals: 243
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8263
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variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05909764880322e-4
allele num: 9442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
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SIO_000300: 1.376279e6

MQ
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SIO_000300: 3.683e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -3.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.866e0

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeDepth
all individuals: 1908
bin: 6.75e1
variant carriers: 1837

GenotypeDepth
all individuals: 3568
bin: 4.25e1
variant carriers: 3354

GenotypeDepth
all individuals: 3585
bin: 4.75e1
variant carriers: 3407

GenotypeDepth
all individuals: 252
bin: 2.5e0
variant carriers: 188

GenotypeDepth
all individuals: 3359
bin: 3.75e1
variant carriers: 3109

GenotypeDepth
all individuals: 2915
bin: 5.75e1
variant carriers: 2802

GenotypeDepth
all individuals: 648
bin: 7.5e0
variant carriers: 549

GenotypeDepth
all individuals: 4215
bin: 1.75e1
variant carriers: 4079

GenotypeDepth
all individuals: 3609
bin: 3.25e1
variant carriers: 3001

GenotypeDepth
all individuals: 477
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variant carriers: 466

GenotypeDepth
all individuals: 3302
bin: 5.25e1
variant carriers: 3158

GenotypeDepth
all individuals: 1177
bin: 7.75e1
variant carriers: 1137

GenotypeDepth
all individuals: 17630
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variant carriers: 4568

GenotypeDepth
all individuals: 1949
bin: 1.25e1
variant carriers: 1848

GenotypeDepth
all individuals: 934
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variant carriers: 911

GenotypeDepth
all individuals: 2343
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variant carriers: 2237

GenotypeDepth
all individuals: 1652
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variant carriers: 1631

GenotypeDepth
all individuals: 631
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variant carriers: 620

GenotypeQuality
all individuals: 655
bin: 1.25e1
variant carriers: 560

GenotypeQuality
all individuals: 1022
bin: 3.25e1
variant carriers: 947

GenotypeQuality
all individuals: 960
bin: 2.5e0
variant carriers: 316

GenotypeQuality
all individuals: 835
bin: 2.25e1
variant carriers: 709

GenotypeQuality
all individuals: 1441
bin: 8.25e1
variant carriers: 1193

GenotypeQuality
all individuals: 1665
bin: 4.75e1
variant carriers: 1627

GenotypeQuality
all individuals: 1810
bin: 5.25e1
variant carriers: 1759

GenotypeQuality
all individuals: 727
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variant carriers: 663

GenotypeQuality
all individuals: 4211
bin: 6.75e1
variant carriers: 1694

GenotypeQuality
all individuals: 1147
bin: 5.75e1
variant carriers: 1117

GenotypeQuality
all individuals: 718
bin: 1.75e1
variant carriers: 634

GenotypeQuality
all individuals: 938
bin: 4.25e1
variant carriers: 890

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 717

GenotypeQuality
all individuals: 631
bin: 7.5e0
variant carriers: 488

GenotypeQuality
all individuals: 1225
bin: 3.75e1
variant carriers: 1150

GenotypeQuality
all individuals: 1084
bin: 9.25e1
variant carriers: 907

GenotypeQuality
all individuals: 1726
bin: 7.75e1
variant carriers: 1370

GenotypeQuality
all individuals: 25185
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variant carriers: 24659

GenotypeQuality
all individuals: 12338
bin: 6.25e1
variant carriers: 1689

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 974

Latino
type: Population
allele count: 7016
allele frequency: 6.526511627906977e-1
allele num: 10750
num of homozygotes: 2285

Other
type: Population
allele count: 395
allele frequency: 4.625292740046839e-1
allele num: 854
num of homozygotes: 90

European (Finnish)
type: Population
allele count: 2542
allele frequency: 3.98932831136221e-1
allele num: 6372
num of homozygotes: 507

East Asian
type: Population
allele count: 6566
allele frequency: 8.017094017094017e-1
allele num: 8190
num of homozygotes: 2648

South Asian
type: Population
allele count: 8959
allele frequency: 5.611299010397094e-1
allele num: 15966
num of homozygotes: 2602

European (Non-Finnish)
type: Population
allele count: 25741
allele frequency: 4.069208637642669e-1
allele num: 63258
num of homozygotes: 5162

African
type: Population
allele count: 5594
allele frequency: 6.278338945005612e-1
allele num: 8910
num of homozygotes: 1828

DP
type: SiteQuality
SIO_000300: 2.363214e6

QD
type: SiteQuality
SIO_000300: 1.05e1

MQ
type: SiteQuality
SIO_000300: 4.823e1

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.571e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 9.314e0

MQRankSum
type: SiteQuality
SIO_000300: -3.747e0

GenotypeDepth
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4206
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variant carriers: 0

GenotypeDepth
all individuals: 3403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2623
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variant carriers: 0

GenotypeDepth
all individuals: 3779
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variant carriers: 0

GenotypeDepth
all individuals: 1908
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variant carriers: 0

GenotypeDepth
all individuals: 736
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variant carriers: 0

GenotypeDepth
all individuals: 1492
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variant carriers: 0

GenotypeDepth
all individuals: 4898
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variant carriers: 0

GenotypeDepth
all individuals: 251
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variant carriers: 0

GenotypeDepth
all individuals: 986
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variant carriers: 0

GenotypeDepth
all individuals: 196
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variant carriers: 0

GenotypeDepth
all individuals: 6858
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variant carriers: 0

GenotypeDepth
all individuals: 144
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variant carriers: 0

GenotypeDepth
all individuals: 937
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variant carriers: 0

GenotypeDepth
all individuals: 2228
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variant carriers: 0

GenotypeDepth
all individuals: 842
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variant carriers: 0

GenotypeDepth
all individuals: 314
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variant carriers: 1

GenotypeQuality
all individuals: 1456
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 2127
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 894
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variant carriers: 0

GenotypeQuality
all individuals: 1120
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variant carriers: 0

GenotypeQuality
all individuals: 2966
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variant carriers: 0

GenotypeQuality
all individuals: 1074
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 1579
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 884
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5733
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variant carriers: 0

GenotypeQuality
all individuals: 17957
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
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SIO_000300: 2.056384e6

ClippingRankSum
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SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 8.576000000000001e0

VQSLOD
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SIO_000300: -1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
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SIO_000300: 4.899e1

BaseQRankSum
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SIO_000300: -3.266e0

QD
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SIO_000300: 3.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2709
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1104
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17253
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variant carriers: 0

GenotypeQuality
all individuals: 1357
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.066098081023454e-4
allele num: 9380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
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SIO_000300: 2.057536e6

QD
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SIO_000300: 6.48e0

VQSLOD
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SIO_000300: -3.305e0

ClippingRankSum
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SIO_000300: 5.2e-2

BaseQRankSum
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SIO_000300: -1.349e0

ReadPosRankSum
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SIO_000300: 6.23e-1

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -2.076e0

MQ
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SIO_000300: 3.768e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 313
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1091
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variant carriers: 0

GenotypeQuality
all individuals: 1467
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variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 1560
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variant carriers: 0

GenotypeQuality
all individuals: 1104
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variant carriers: 0

GenotypeQuality
all individuals: 17959
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16868
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variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 5.25e1
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GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
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MQ
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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FS
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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MQ
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QD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.495105e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
all individuals: 1142
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3546
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5075
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7646
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33377
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6058
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7939
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.112378538234052e-4
allele num: 9468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.496455e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 4.462e1

VQSLOD
type: SiteQuality
SIO_000300: -2.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeDepth
all individuals: 565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4998
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1189
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3606
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7645
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 33351
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 113
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6058
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7946
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.638522427440633e-4
allele num: 3790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.230272265805261e-4
allele num: 21670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 4.568e1

QD
type: SiteQuality
SIO_000300: 1.216e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.498303e6

VQSLOD
type: SiteQuality
SIO_000300: -8.427e-1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000013573
ensembl protein: ENSP00000440402
ensembl transcript: ENST00000545668
gene symbol: DDX11
hgvsc: ENST00000545668.1:c.395C>T
hgvsp: ENSP00000440402.1:p.Ala132Val
variant of: http://identifiers.org/hgnc/2736

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 308
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 138
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 970
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3951
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1397
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 4432
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6058
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33233
bin: 7.5e0
variant carriers: 14

GenotypeDepth
all individuals: 174
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7681
bin: 1.25e1
variant carriers: 22

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 244
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1090
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1936
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7969
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 1.396773902856628e-3
allele num: 22194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.189413596263622e-4
allele num: 3854
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.852995676343422e-3
allele num: 3238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQ
type: SiteQuality
SIO_000300: 4.019e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.510786e6

FS
type: SiteQuality
SIO_000300: 1.197e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.658e0

QD
type: SiteQuality
SIO_000300: 1.126e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000013573
ensembl transcript: ENST00000535158
gene symbol: DDX11
hgvsc: ENST00000535158.1:n.590G>A
variant of: http://identifiers.org/hgnc/2736

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000013573
ensembl protein: ENSP00000406457
ensembl transcript: ENST00000415475
gene symbol: DDX11
hgvsc: ENST00000415475.2:c.318G>A
hgvsp: ENST00000415475.2:c.318G>A(p.%3D)
variant of: http://identifiers.org/hgnc/2736

GenotypeDepth
all individuals: 575
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4260
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33255
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6058
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4192
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7635
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7944
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1543
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.04384133611691e-3
allele num: 2874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 7.664793050587634e-4
allele num: 3914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.547000000000001e0

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: -1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

MQ
type: SiteQuality
SIO_000300: 4.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 1.515128e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000013573
ensembl protein: ENSP00000251758
ensembl transcript: ENST00000251758
gene symbol: DDX11
hgvsc: ENST00000251758.5:c.396G>T
hgvsp: ENST00000251758.5:c.396G>T(p.%3D)
variant of: http://identifiers.org/hgnc/2736

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000013573
ensembl protein: ENSP00000473610
ensembl transcript: ENST00000544652
gene symbol: DDX11
hgvsc: ENST00000544652.1:c.267+524G>T
variant of: http://identifiers.org/hgnc/2736

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7635
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33255
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4192
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4260
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6058
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 6.25e1
variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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South Asian
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Other
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 3968
num of homozygotes: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 8.757334267448988e-5
allele num: 22838
num of homozygotes: 0

Latino
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South Asian
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Other
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European (Finnish)
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ReadPosRankSum
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SIO_000300: 7.2e-1

MQ
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: -9.52e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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FS
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MQRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 4.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 4.75e1
variant carriers: 4

European (Non-Finnish)
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allele count: 194
allele frequency: 8.059155865736125e-3
allele num: 24072
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 1.196172248803828e-2
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 3.117505995203837e-3
allele num: 4170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 3.509719222462203e-3
allele num: 3704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

European (Finnish)
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allele count: 42
allele frequency: 1.450276243093923e-2
allele num: 2896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

BaseQRankSum
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SIO_000300: 5.53e-1

DP
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SIO_000300: 1.531327e6

InbreedingCoeff
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SIO_000300: -8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
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SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.948e0

MQ
type: SiteQuality
SIO_000300: 3.779e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 201
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.156621498046388e-5
allele num: 24058
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 9.06e-1

BaseQRankSum
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SIO_000300: 3.44e0

InbreedingCoeff
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SIO_000300: -1.0e-2

MQ
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ReadPosRankSum
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SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 1.4236e1

MQRankSum
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SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 6.54e0

VQSLOD
type: SiteQuality
SIO_000300: -5.507e0

DP
type: SiteQuality
SIO_000300: 1.525114e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 31970
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3131
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.26797385620915e-4
allele num: 3060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.405002405002405e-4
allele num: 4158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23802
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
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SIO_000300: -3.973e0

FS
type: SiteQuality
SIO_000300: 1.2092e1

BaseQRankSum
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SIO_000300: -1.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.515702e6

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeDepth
all individuals: 307
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.22654268808115e-5
allele num: 23660
num of homozygotes: 0

South Asian
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allele frequency: 1.01461038961039e-4
allele num: 9856
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Other
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East Asian
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ClippingRankSum
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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MQ
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SIO_000300: 3.25e1

InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7948
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.788622420524261e-4
allele num: 3586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.503377e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.737e0

VQSLOD
type: SiteQuality
SIO_000300: -5.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.948e0