4-190989934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989934
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989934
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.709C>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1139C>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

4-190989935-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989935
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989935
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.710G>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1140G>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 0
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS

4-190989936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989936
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989936
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1141G>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.711G>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele num: 0
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

4-190989940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989940
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989940
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.715C>G
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1145C>G
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
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  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-190989947-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989947
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989947
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.722T>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1152T>A
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

4-190989953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989953
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989953
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.728C>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
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population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
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site quality: QD

4-190989954-G-A
type: Variant
location: Region
  begin: Position
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    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989954
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.729G>A
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
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site quality: MQ

4-190989955-C-T
type: Variant
location: Region
  begin: Position
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    position: 190989955
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989955
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
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  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1160C>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.730C>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
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site quality: VQSLOD
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4-190989967-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989967
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989966
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1173delG
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.743delG
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: CG
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/4-190989969-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989969
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989969
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.744C>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1174C>A
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
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  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

4-190989971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989971
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989971
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1176G>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.746G>A
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: East Asian
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population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

4-190989973-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989973
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1178G>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.748G>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
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4-190989980-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190989980
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190989980
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.755G>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1185G>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS

4-190990077-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190990077
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990077
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1282G>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.852G>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
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genotype depth: GenotypeDepth
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population: East Asian
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4-190990080-C-G
type: Variant
location: Region
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    type: ExactPosition
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allele count: 0
allele frequency: NaN
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annotation: Annotation
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  gene symbol: DUX4L8
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  variant of: http://identifiers.org/hgnc/38670
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  hgvsc: ENST00000509250.3:n.855C>G
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
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genotype depth: GenotypeDepth
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population: African
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reference allele: C
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http://identifiers.org/exac.variant/4-190990084-C-A
type: Variant
location: Region
  begin: Position
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    reference: chr 4
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alternate allele: A
annotation: Annotation
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  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1289C>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/38670
canonical: true
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http://identifiers.org/exac.variant/4-190990087-C-A
type: Variant
location: Region
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    reference: chr 4
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annotation: Annotation
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canonical: true
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4-190990095-G-A
type: Variant
location: Region
  begin: Position
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    reference: chr 4
  end: Position
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  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
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  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

4-190990100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190990100
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990100
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.875C>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000536428
  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1305C>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
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population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
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site quality: QD
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4-190990102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190990102
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990102
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
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  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
  ensembl transcript: ENST00000509250
  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.877C>T
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1307C>T
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
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population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
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4-190990106-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190990106
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990106
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
  hgvsc: ENST00000536428.1:n.1311C>G
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.881C>G
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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population: African
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population: European (Finnish)
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population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
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http://identifiers.org/exac.variant/4-190990115-C-A
type: Variant
location: Region
  begin: Position
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    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990115
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
  hgvsc: ENST00000509250.3:n.890C>A
  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000250537
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  hgvsc: ENST00000536428.1:n.1320C>A
  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Finnish)
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population: Other
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population: European (Non-Finnish)
population: African
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4-190990116-TCCGCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190990116
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 190990110
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250537
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  gene symbol: DUX4L8
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  variant of: http://identifiers.org/hgnc/38670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
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  gene symbol: DUX4L8
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  variant of: http://identifiers.org/hgnc/38670
canonical: true
consequence: non coding transcript exon
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Latino
  type: Population
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population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: TCCGCGC
site quality: DP
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4-191002114-T-C
type: Variant
location: Region
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    reference: chr 4
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allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
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  gene symbol: DUX4L4
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  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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population: African
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4-191002166-T-C
type: Variant
location: Region
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    reference: chr 4
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allele count: 0
allele frequency: NaN
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alternate allele: C
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/38686
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filter: VQSRTrancheSNP99.60to99.80
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4-191002254-C-G
type: Variant
location: Region
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    reference: chr 4
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allele count: 0
allele frequency: NaN
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alternate allele: G
annotation: Annotation
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  gene symbol: DUX4L4
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  variant of: http://identifiers.org/hgnc/38686
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population: East Asian
population: Latino
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4-191002290-T-C
type: Variant
location: Region
  begin: Position
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    reference: chr 4
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allele count: 0
allele frequency: NaN
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alternate allele: C
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro67Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-191002957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191002957
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191002957
    reference: chr 4
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+208G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.868G>A
  hgvsp: ENSP00000438513.1:p.Val290Ile
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.685G>A
  hgvsp: ENSP00000451270.1:p.Val229Ile
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val290Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

4-191003051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003051
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003051
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 22
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.962C>T
  hgvsp: ENSP00000438513.1:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+302C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.779C>T
  hgvsp: ENSP00000451270.1:p.Pro260Leu
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro321Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

4-191003054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003054
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003054
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 18
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.965C>T
  hgvsp: ENSP00000438513.1:p.Pro322Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+305C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.782C>T
  hgvsp: ENSP00000451270.1:p.Pro261Leu
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro322Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-191003059-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003059
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003059
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 20
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.787C>A
  hgvsp: ENSP00000451270.1:p.Pro263Thr
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.970C>A
  hgvsp: ENSP00000438513.1:p.Pro324Thr
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+310C>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro324Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

4-191003081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003081
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003081
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 48
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.992G>A
  hgvsp: ENSP00000438513.1:p.Arg331Gln
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.809G>A
  hgvsp: ENSP00000451270.1:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+332G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg331Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-191003088-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003088
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003088
    reference: chr 4
allele count: 1
allele frequency: 2.631578947368421e-2
allele num: 38
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.816G>C
  hgvsp: ENST00000554637.2:c.816G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+339G>C
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.999G>C
  hgvsp: ENST00000538692.1:c.999G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro333Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

4-191003094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003094
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003094
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 20
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.822C>T
  hgvsp: ENST00000554637.2:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+345C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1005C>T
  hgvsp: ENST00000538692.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Arg335Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-191003098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003098
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003098
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1009G>A
  hgvsp: ENSP00000438513.1:p.Gly337Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.826G>A
  hgvsp: ENSP00000451270.1:p.Gly276Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+349G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly337Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-191003112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003112
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003112
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1023C>T
  hgvsp: ENST00000538692.1:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+363C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.840C>T
  hgvsp: ENST00000554637.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro341Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-191003116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003116
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003116
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.844G>A
  hgvsp: ENSP00000451270.1:p.Ala282Thr
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+367G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1027G>A
  hgvsp: ENSP00000438513.1:p.Ala343Thr
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala343Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

4-191003151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003151
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 10
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1062G>A
  hgvsp: ENST00000538692.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+402G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.879G>A
  hgvsp: ENST00000554637.2:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6541
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro354Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

4-191003152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003152
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003152
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+403C>G
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1063C>G
  hgvsp: ENSP00000438513.1:p.Gln355Glu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.880C>G
  hgvsp: ENSP00000451270.1:p.Gln294Glu
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln355Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

4-191003163-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003163
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003163
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 28
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+414G>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.891G>T
  hgvsp: ENST00000554637.2:c.891G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1074G>T
  hgvsp: ENST00000538692.1:c.1074G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8336
  bin: 7.5e0
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Gly358Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

4-191003164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003164
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003164
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 52
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1075G>C
  hgvsp: ENSP00000438513.1:p.Val359Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.892G>C
  hgvsp: ENSP00000451270.1:p.Val298Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+415G>C
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9517
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val359Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-191003167-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003167
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 64
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.895C>A
  hgvsp: ENSP00000451270.1:p.Leu299Ile
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+418C>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1078C>A
  hgvsp: ENSP00000438513.1:p.Leu360Ile
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu360Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS

4-191003168-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003168
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003168
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 72
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+419T>G
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1079T>G
  hgvsp: ENSP00000438513.1:p.Leu360Arg
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.896T>G
  hgvsp: ENSP00000451270.1:p.Leu299Arg
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu360Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

4-191003169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003169
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003169
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 70
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1080T>C
  hgvsp: ENST00000538692.1:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.897T>C
  hgvsp: ENST00000554637.2:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+420T>C
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10944
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu360Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

4-191003171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003171
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003171
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 52
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+422C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.899C>T
  hgvsp: ENSP00000451270.1:p.Ala300Val
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1082C>T
  hgvsp: ENSP00000438513.1:p.Ala361Val
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9927
  bin: 7.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala361Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-191003175-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003175
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003175
    reference: chr 4
allele count: 1
allele frequency: 5.494505494505495e-3
allele num: 182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.903A>C
  hgvsp: ENST00000554637.2:c.903A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1086A>C
  hgvsp: ENST00000538692.1:c.1086A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+426A>C
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11861
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Pro362Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

4-191003176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003176
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003176
    reference: chr 4
allele count: 182
allele frequency: 5.083798882681564e-1
allele num: 358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1087C>T
  hgvsp: ENSP00000438513.1:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+427C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.904C>T
  hgvsp: ENSP00000451270.1:p.Pro302Ser
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 962
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.5e0
  variant carriers: 752
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.75e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 6.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 7.5e0
  variant carriers: 385
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 79
hgvs: p.Pro363Ser
num of homozygotes: 8
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

4-191003179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003179
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003179
    reference: chr 4
allele count: 1
allele frequency: 2.252252252252252e-3
allele num: 444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+430A>G
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.907A>G
  hgvsp: ENSP00000451270.1:p.Thr303Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1090A>G
  hgvsp: ENSP00000438513.1:p.Thr364Ala
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9737
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Thr364Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-191003180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003180
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003180
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+431C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.908C>T
  hgvsp: ENSP00000451270.1:p.Thr303Met
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1091C>T
  hgvsp: ENSP00000438513.1:p.Thr364Met
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11778
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Thr364Met
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: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

4-191003181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003181
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003181
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.909G>A
  hgvsp: ENST00000554637.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+432G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1092G>A
  hgvsp: ENST00000538692.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11022
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr364Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

4-191003181-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003181
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003181
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1092G>T
  hgvsp: ENST00000538692.1:c.1092G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+432G>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.909G>T
  hgvsp: ENST00000554637.2:c.909G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 2.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11022
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Thr364Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

4-191003192-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003192
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003192
    reference: chr 4
allele count: 2
allele frequency: 1.926782273603083e-3
allele num: 1038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1103G>T
  hgvsp: ENSP00000438513.1:p.Ser368Ile
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.920G>T
  hgvsp: ENSP00000451270.1:p.Ser307Ile
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+443G>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17840
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15026
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser368Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

4-191003194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003194
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003194
    reference: chr 4
allele count: 2
allele frequency: 1.669449081803005e-3
allele num: 1198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.922C>T
  hgvsp: ENSP00000451270.1:p.Pro308Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1105C>T
  hgvsp: ENSP00000438513.1:p.Pro369Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+445C>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15425
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Pro369Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

4-191003196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003196
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003196
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 1956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.924G>A
  hgvsp: ENST00000554637.2:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1107G>A
  hgvsp: ENST00000538692.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+447G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18490
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16715
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro369Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

4-191003198-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003198
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003198
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 2226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.926G>T
  hgvsp: ENSP00000451270.1:p.Trp309Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1109G>T
  hgvsp: ENSP00000438513.1:p.Trp370Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+449G>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18862
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Trp370Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

4-191003199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003199
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003199
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 2170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.927G>A
  hgvsp: ENSP00000451270.1:p.Trp309Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1110G>A
  hgvsp: ENSP00000438513.1:p.Trp370Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+450G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Trp370Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-191003199-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003199
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003199
    reference: chr 4
allele count: 22
allele frequency: 1.013824884792627e-2
allele num: 2170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.927G>T
  hgvsp: ENSP00000451270.1:p.Trp309Cys
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1110G>T
  hgvsp: ENSP00000438513.1:p.Trp370Cys
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+450G>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17886
  bin: 2.5e0
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 7.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15221
  bin: 7.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 3005
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 197
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 6
hgvs: p.Trp370Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-191003201-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003201
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003201
    reference: chr 4
allele count: 23
allele frequency: 9.504132231404958e-3
allele num: 2420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1112G>T
  hgvsp: ENSP00000438513.1:p.Trp371Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.929G>T
  hgvsp: ENSP00000451270.1:p.Trp310Leu
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+452G>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.5e0
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 15296
  bin: 7.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
hgvs: p.Trp371Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

4-191003202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003202
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003202
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 3232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+453G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1113G>A
  hgvsp: ENSP00000438513.1:p.Trp371Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.930G>A
  hgvsp: ENSP00000451270.1:p.Trp310Ter
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18652
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4100
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
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genotype quality: GenotypeQuality
  all individuals: 285
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 16589
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Trp371Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

4-191003203-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003203
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003203
    reference: chr 4
allele count: 23
allele frequency: 8.363636363636363e-3
allele num: 2750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+454G>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1114G>T
  hgvsp: ENSP00000438513.1:p.Gly372Cys
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.931G>T
  hgvsp: ENSP00000451270.1:p.Gly311Cys
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 7.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18079
  bin: 2.5e0
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15340
  bin: 7.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 6.25e1
  variant carriers: 5
hgvs: p.Gly372Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-191003204-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003204
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003204
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 3630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1115G>C
  hgvsp: ENSP00000438513.1:p.Gly372Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.932G>C
  hgvsp: ENSP00000451270.1:p.Gly311Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+455G>C
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19180
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17449
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Gly372Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/4-191003205-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003205
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003205
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 3720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1116C>A
  hgvsp: ENST00000538692.1:c.1116C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.933C>A
  hgvsp: ENST00000554637.2:c.933C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+456C>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly372Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

4-191003206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003206
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003206
    reference: chr 4
allele count: 1
allele frequency: 2.522704339051463e-4
allele num: 3964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.934T>C
  hgvsp: ENSP00000451270.1:p.Trp312Arg
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+457T>C
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1117T>C
  hgvsp: ENSP00000438513.1:p.Trp373Arg
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Trp373Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

4-191003207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003207
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003207
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 4000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1118G>A
  hgvsp: ENSP00000438513.1:p.Trp373Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.935G>A
  hgvsp: ENSP00000451270.1:p.Trp312Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+458G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17300
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp373Ter
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

4-191003210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003210
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003210
    reference: chr 4
allele count: 1
allele frequency: 2.243158366980709e-4
allele num: 4458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.938G>C
  hgvsp: ENSP00000451270.1:p.Gly313Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1121G>C
  hgvsp: ENSP00000438513.1:p.Gly374Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+461G>C
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17061
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly374Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-191003210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003210
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003210
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 4458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+461G>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1121G>T
  hgvsp: ENSP00000438513.1:p.Gly374Val
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.938G>T
  hgvsp: ENSP00000451270.1:p.Gly313Val
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17061
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly374Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-191003211-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003211
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003211
    reference: chr 4
allele count: 1
allele frequency: 2.043318348998774e-4
allele num: 4894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.939C>A
  hgvsp: ENST00000554637.2:c.939C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+462C>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1122C>A
  hgvsp: ENST00000538692.1:c.1122C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19157
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1185
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genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly374Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-191003213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003213
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003213
    reference: chr 4
allele count: 2
allele frequency: 3.757985719654265e-4
allele num: 5322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+464G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1124G>A
  hgvsp: ENSP00000438513.1:p.Arg375Gln
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.941G>A
  hgvsp: ENSP00000451270.1:p.Arg314Gln
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5748
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16420
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Arg375Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

4-191003214-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003214
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003214
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+465G>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.942G>T
  hgvsp: ENST00000554637.2:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1125G>T
  hgvsp: ENST00000538692.1:c.1125G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17190
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg375Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

4-191003215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003215
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003215
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+466G>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1126G>A
  hgvsp: ENSP00000438513.1:p.Gly376Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.943G>A
  hgvsp: ENSP00000451270.1:p.Gly315Ser
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19079
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17552
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly376Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-191003216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003216
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003216
    reference: chr 4
allele count: 1
allele frequency: 1.502855425308085e-4
allele num: 6654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1127G>A
  hgvsp: ENSP00000438513.1:p.Gly376Asp
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.944G>A
  hgvsp: ENSP00000451270.1:p.Gly315Asp
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.477+467G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly376Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-191003218-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
allele count: 4
allele frequency: 5.85308750365818e-4
allele num: 6834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-468C>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1129C>A
  hgvsp: ENSP00000438513.1:p.Pro377Thr
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.946C>A
  hgvsp: ENSP00000451270.1:p.Pro316Thr
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro377Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

4-191003218-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.946C>G
  hgvsp: ENSP00000451270.1:p.Pro316Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1129C>G
  hgvsp: ENSP00000438513.1:p.Pro377Ala
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-468C>G
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro377Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

4-191003218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003218
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6834
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1129C>T
  hgvsp: ENSP00000438513.1:p.Pro377Ser
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-468C>T
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.946C>T
  hgvsp: ENSP00000451270.1:p.Pro316Ser
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18559
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16717
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro377Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-191003219-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003219
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003219
    reference: chr 4
allele count: 1
allele frequency: 1.349163518618457e-4
allele num: 7412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1130C>A
  hgvsp: ENSP00000438513.1:p.Pro377His
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-467C>A
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.947C>A
  hgvsp: ENSP00000451270.1:p.Pro316His
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18707
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 17234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 533
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro377His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

4-191003220-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003220
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003220
    reference: chr 4
allele count: 303
allele frequency: 4.866688082235785e-2
allele num: 6226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-466C>G
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1131C>G
  hgvsp: ENST00000538692.1:c.1131C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.948C>G
  hgvsp: ENST00000554637.2:c.948C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 7.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 15859
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 6.25e1
  variant carriers: 17
hgvs: p.Pro377Pro
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-191003221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003221
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003221
    reference: chr 4
allele count: 6
allele frequency: 6.625441696113075e-4
allele num: 9056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.949C>T
  hgvsp: ENSP00000451270.1:p.Gln317Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1132C>T
  hgvsp: ENSP00000438513.1:p.Gln378Ter
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-465C>T
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15561
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln378Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-191003222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003222
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003222
    reference: chr 4
allele count: 1
allele frequency: 1.00664384940608e-4
allele num: 9934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-464A>G
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1133A>G
  hgvsp: ENSP00000438513.1:p.Gln378Arg
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.950A>G
  hgvsp: ENSP00000451270.1:p.Gln317Arg
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln378Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-191003223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 191003223
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 191003223
    reference: chr 4
allele count: 184
allele frequency: 1.884473576403113e-2
allele num: 9764
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000438513
  ensembl transcript: ENST00000538692
  gene symbol: DUX4L4
  hgvsc: ENST00000538692.1:c.1134G>A
  hgvsp: ENST00000538692.1:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000451270
  ensembl transcript: ENST00000554637
  gene symbol: DUX4L4
  hgvsc: ENST00000554637.2:c.951G>A
  hgvsp: ENST00000554637.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38686
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258834
  ensembl protein: ENSP00000474688
  ensembl transcript: ENST00000604656
  gene symbol: DUX4L4
  hgvsc: ENST00000604656.1:c.478-463G>A
  variant of: http://identifiers.org/hgnc/38686
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.75e1
  variant carriers: 24
hgvs: p.Gln378Gln
num of homozygotes: 0
reference allele: G

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.377e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.677e1

DP
type: SiteQuality
SIO_000300: 1.302e3

QD
type: SiteQuality
SIO_000300: 2.716e1

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.284e3

MQ
type: SiteQuality
SIO_000300: 2.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.364e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 2.357e1

FS
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.232e3

QD
type: SiteQuality
SIO_000300: 2.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.9e1

VQSLOD
type: SiteQuality
SIO_000300: -2.542e0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.904e1

DP
type: SiteQuality
SIO_000300: 1.142e3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.215e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

VQSLOD
type: SiteQuality
SIO_000300: 1.468e1

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.638e1

DP
type: SiteQuality
SIO_000300: 7.9e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.343e-1

MQ
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.199e1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.327e-1

DP
type: SiteQuality
SIO_000300: 5.24e2

MQ
type: SiteQuality
SIO_000300: 2.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.625e1

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.99e2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.548999999999999e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.209e-1

QD
type: SiteQuality
SIO_000300: 3.465e1

MQ
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.039999999999999e-2

DP
type: SiteQuality
SIO_000300: 4.9e2

QD
type: SiteQuality
SIO_000300: 2.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.003e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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DP
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VQSLOD
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DP
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DP
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VQSLOD
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DP
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VQSLOD
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FS
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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MQ
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GenotypeQuality
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DP
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African
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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East Asian
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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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allele frequency: 9.259259259259259e-3
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 26

European (Finnish)
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allele frequency: 5.0e-1
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European (Non-Finnish)
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allele frequency: 5.048543689320388e-1
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East Asian
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South Asian
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Other
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Latino
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allele frequency: 7.5e-1
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African
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FS
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VQSLOD
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ClippingRankSum
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MQ
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 4.032258064516129e-3
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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QD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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Latino
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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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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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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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Other
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African
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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QD
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FS
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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European (Finnish)
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Other
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East Asian
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African
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South Asian
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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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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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Other
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South Asian
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allele frequency: 3.333333333333334e-3
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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num of homozygotes: 0

African
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQ
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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European (Non-Finnish)
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Latino
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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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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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 5

European (Finnish)
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Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 888
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Latino
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 6

Latino
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allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.509054325955734e-2
allele num: 994
num of homozygotes: 0

East Asian
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allele frequency: 5.555555555555556e-3
allele num: 180
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 4.908835904628331e-3
allele num: 1426
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.18043e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

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

African
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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
allele num: 52
num of homozygotes: 0

MQ
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.19776e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1468
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 7.36e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -6.79e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 2.848e1

VQSLOD
type: SiteQuality
SIO_000300: -2.975e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
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allele frequency: 5.02008032128514e-4
allele num: 1992
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.785e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
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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
allele num: 50
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.29858e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
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SIO_000300: -6.419999999999999e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.708e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.825e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele frequency: 4.512635379061372e-4
allele num: 2216
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.37999e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

African
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allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

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

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 7.18e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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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
allele num: 286
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1908
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 7.936507936507936e-3
allele num: 126
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 2

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

South Asian
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allele frequency: 3.776435045317221e-4
allele num: 2648
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.02008032128514e-4
allele num: 1992
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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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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num of homozygotes: 0

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

MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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Other
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MQ
type: SiteQuality
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FS
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DP
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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QD
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FS
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 206
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 1.247660636306925e-3
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

QD
type: SiteQuality
SIO_000300: 5.6e0

DP
type: SiteQuality
SIO_000300: 1.72615e5

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.497e-1

FS
type: SiteQuality
SIO_000300: 1.001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 3.383e1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.72615e5

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 1.001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.6e0

MQ
type: SiteQuality
SIO_000300: 3.383e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.497e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.949852507374631e-4
allele num: 3390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.92e-2

DP
type: SiteQuality
SIO_000300: 1.76783e5

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 6.067e0

MQ
type: SiteQuality
SIO_000300: 3.572e1

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 199
allele frequency: 7.63036809815951e-2
allele num: 2608
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 4.047619047619048e-2
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.555555555555555e-2
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 62
allele frequency: 2.223816355810617e-2
allele num: 2788
num of homozygotes: 1

Latino
type: Population
allele count: 9
allele frequency: 5.172413793103448e-2
allele num: 174
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.631578947368421e-2
allele num: 76
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 9.677419354838709e-2
allele num: 124
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.21e0

FS
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.820000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 3.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

DP
type: SiteQuality
SIO_000300: 1.97943e5

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.136106831022085e-4
allele num: 3894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 8.038585209003215e-4
allele num: 3732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.048780487804878e-3
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.178e0

VQSLOD
type: SiteQuality
SIO_000300: -2.158e0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.56e-2

QD
type: SiteQuality
SIO_000300: 1.086e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.586e1

DP
type: SiteQuality
SIO_000300: 1.97698e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.298850574712644e-4
allele num: 4350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.99847e5

VQSLOD
type: SiteQuality
SIO_000300: -2.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

MQ
type: SiteQuality
SIO_000300: 3.579e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

QD
type: SiteQuality
SIO_000300: 6.92e0