5-149681776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681776
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681776
    reference: chr 5
allele count: 5
allele frequency: 4.339223105495192e-5
allele num: 115228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3601C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.161C>T
  hgvsp: ENSP00000333395.7:p.Thr54Met
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3601C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
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 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 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
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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: 249
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr54Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-149681784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681784
    reference: chr 5
allele count: 1
allele frequency: 8.758561493860249e-6
allele num: 114174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3609C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.153C>T
  hgvsp: ENST00000328668.7:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3609C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  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 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 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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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: 8
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  variant carriers: 0
hgvs: p.Phe51Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-149681789-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681789
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681789
    reference: chr 5
allele count: 1
allele frequency: 8.843296781039971e-6
allele num: 113080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3614A>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.148A>C
  hgvsp: ENSP00000333395.7:p.Ile50Leu
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3614A>C
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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 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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hgvs: p.Ile50Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-149681792-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681792
    reference: chr 5
allele count: 1
allele frequency: 8.902658333778466e-6
allele num: 112326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3617A>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.145A>T
  hgvsp: ENSP00000333395.7:p.Ile49Phe
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3617A>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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  variant carriers: 0
hgvs: p.Ile49Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-149681796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681796
    reference: chr 5
allele count: 1
allele frequency: 9.101831288455237e-6
allele num: 109868
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.141C>T
  hgvsp: ENST00000328668.7:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3621C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3621C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
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
  all individuals: 1915
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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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
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro47Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-149681801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681801
    reference: chr 5
allele count: 1
allele frequency: 9.22900861989405e-6
allele num: 108354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.136C>T
  hgvsp: ENSP00000333395.7:p.Pro46Ser
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3626C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3626C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31335
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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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: 2
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genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro46Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-149681802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681802
    reference: chr 5
allele count: 1
allele frequency: 9.291953168556031e-6
allele num: 107620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3627G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.135G>A
  hgvsp: ENST00000328668.7:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3627G>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
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  variant carriers: 1
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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2612
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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: 15
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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: 231
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genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln45Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-149681807-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681807
    reference: chr 5
allele count: 1
allele frequency: 9.586808551433227e-6
allele num: 104310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3632C>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3632C>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.130C>A
  hgvsp: ENSP00000333395.7:p.Pro44Thr
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27347
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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 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
  all individuals: 3164
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  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
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro44Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/5-149681817-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681817
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681817
    reference: chr 5
allele count: 1
allele frequency: 1.064282673478076e-5
allele num: 93960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.120G>T
  hgvsp: ENST00000328668.7:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3642G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3642G>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
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 depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser40Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-149681818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681818
    reference: chr 5
allele count: 9
allele frequency: 9.679500967950097e-5
allele num: 92980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3643C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3643C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.119C>T
  hgvsp: ENSP00000333395.7:p.Ser40Leu
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
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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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 2.75e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24949
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser40Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

5-149681818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681818
    reference: chr 5
allele count: 1
allele frequency: 1.075500107550011e-5
allele num: 92980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3643C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.119C>G
  hgvsp: ENSP00000333395.7:p.Ser40Trp
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3643C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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: 20088
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 2723
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser40Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-149681822-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681822
    reference: chr 5
allele count: 4
allele frequency: 4.519365481086455e-5
allele num: 88508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3647C>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3647C>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.115C>A
  hgvsp: ENSP00000333395.7:p.Pro39Thr
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
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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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  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 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 depth: GenotypeDepth
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  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
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro39Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-149681829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681829
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681829
    reference: chr 5
allele count: 1
allele frequency: 1.258494840171155e-5
allele num: 79460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3654C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.108C>G
  hgvsp: ENST00000328668.7:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3654C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
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
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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 depth: GenotypeDepth
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  bin: 3.75e1
  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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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly36Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-149681830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681830
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681830
    reference: chr 5
allele count: 1
allele frequency: 1.286835671084803e-5
allele num: 77710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3655G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3655G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.107G>T
  hgvsp: ENSP00000333395.7:p.Gly36Val
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16620
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 1
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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
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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: 1277
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4459
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 23226
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 994
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genotype quality: GenotypeQuality
  all individuals: 1831
  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: 559
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly36Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-149681835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681835
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681835
    reference: chr 5
allele count: 1
allele frequency: 1.339836004073102e-5
allele num: 74636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3660G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3660G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.102G>T
  hgvsp: ENSP00000333395.7:p.Glu34Asp
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17799
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  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: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
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: 613
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 144
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu34Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

5-149681836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681836
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681836
    reference: chr 5
allele count: 1
allele frequency: 1.399384270920795e-5
allele num: 71460
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.101A>G
  hgvsp: ENSP00000333395.7:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3661A>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3661A>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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  variant carriers: 1
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 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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  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
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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: 13875
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  variant carriers: 0
hgvs: p.Glu34Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

5-149681838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681838
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681838
    reference: chr 5
allele count: 1
allele frequency: 1.361841209314994e-5
allele num: 73430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3663G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3663G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.99G>A
  hgvsp: ENST00000328668.7:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
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: 18744
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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 depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
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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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  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: 2607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly33Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

5-149681839-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681839
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681839
    reference: chr 5
allele count: 4
allele frequency: 5.531432364410764e-5
allele num: 72314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.98G>C
  hgvsp: ENSP00000333395.7:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3664G>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3664G>C
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14092
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 1
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: 3
  bin: 8.75e1
  variant carriers: 0
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: 1
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 891
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 26819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4580
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genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 14766
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly33Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

5-149681840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681840
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681840
    reference: chr 5
allele count: 1
allele frequency: 1.408609420779806e-5
allele num: 70992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3665G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3665G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.97G>A
  hgvsp: ENSP00000333395.7:p.Gly33Arg
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  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: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 971
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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: 2564
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly33Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-149681841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681841
    reference: chr 5
allele count: 1
allele frequency: 1.403193668790166e-5
allele num: 71266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3666C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.96C>T
  hgvsp: ENST00000328668.7:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3666C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 549
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro32Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

5-149681841-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681841
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681841
    reference: chr 5
allele count: 4
allele frequency: 5.612774675160666e-5
allele num: 71266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3666C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.96C>G
  hgvsp: ENST00000328668.7:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3666C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19829
  bin: 7.5e0
  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
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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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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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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  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
  all individuals: 1151
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15202
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro32Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

5-149681845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681845
    reference: chr 5
allele count: 2
allele frequency: 2.876042565429968e-5
allele num: 69540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3670G>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3670G>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.92G>C
  hgvsp: ENSP00000333395.7:p.Gly31Ala
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.75e1
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly31Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-149681846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681846
    reference: chr 5
allele count: 369
allele frequency: 5.356987311634389e-3
allele num: 68882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3671G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.91G>T
  hgvsp: ENSP00000333395.7:p.Gly31Trp
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3671G>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14010
  bin: 1.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 20860
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 31
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: 4545
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14287
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.75e1
  variant carriers: 339
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28989
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 6
hgvs: p.Gly31Trp
num of homozygotes: 3
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-149681846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681846
    reference: chr 5
allele count: 1
allele frequency: 1.45175807903371e-5
allele num: 68882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3671G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3671G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.91G>A
  hgvsp: ENSP00000333395.7:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14010
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14287
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly31Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-149681850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681850
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681850
    reference: chr 5
allele count: 301
allele frequency: 4.481167187732619e-3
allele num: 67170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.87C>T
  hgvsp: ENST00000328668.7:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3675C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3675C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21657
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 14160
  bin: 1.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
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 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: 450
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 14677
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.75e1
  variant carriers: 292
hgvs: p.Ala29Ala
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-149681856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681856
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681856
    reference: chr 5
allele count: 1
allele frequency: 1.581527755812114e-5
allele num: 63230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3681C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3681C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.81C>T
  hgvsp: ENST00000328668.7:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 1.25e1
  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
  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: 10247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 2.75e1
  variant carriers: 1
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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12384
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe27Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

5-149681869-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681869
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681869
    reference: chr 5
allele count: 4
allele frequency: 7.27749072119933e-5
allele num: 54964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3694C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.68C>G
  hgvsp: ENSP00000333395.7:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3694C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 2.5e0
  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 depth: GenotypeDepth
  all individuals: 14808
  bin: 1.25e1
  variant carriers: 1
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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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 quality: GenotypeQuality
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 242
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala23Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

5-149681873-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681873
    reference: chr 5
allele count: 8
allele frequency: 1.528876657875626e-4
allele num: 52326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3698T>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.64T>C
  hgvsp: ENSP00000333395.7:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3698T>C
  variant of: http://identifiers.org/hgnc/32521
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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  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: 7603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 169
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 254
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8629
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp22Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-149681873-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681873
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 52326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3698T>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3698T>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.64T>A
  hgvsp: ENSP00000333395.7:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25881
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35016
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8629
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp22Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

5-149681886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681886
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681886
    reference: chr 5
allele count: 1
allele frequency: 2.373492832051647e-5
allele num: 42132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3711C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3711C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.51C>T
  hgvsp: ENST00000328668.7:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr17Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-149681891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681891
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681891
    reference: chr 5
allele count: 2
allele frequency: 5.353319057815846e-5
allele num: 37360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.46G>A
  hgvsp: ENSP00000333395.7:p.Gly16Ser
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3716G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3716G>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.75e1
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
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genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2267
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33531
  bin: 2.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly16Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-149681898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681898
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681898
    reference: chr 5
allele count: 1
allele frequency: 3.137156481365291e-5
allele num: 31876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.39C>T
  hgvsp: ENST00000328668.7:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3723C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3723C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-149681899-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681899
    reference: chr 5
allele count: 1
allele frequency: 3.139717425431711e-5
allele num: 31850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.38T>A
  hgvsp: ENSP00000333395.7:p.Leu13His
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3724T>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3724T>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1096
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  variant carriers: 1
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
  all individuals: 42
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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 depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 3
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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
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genotype quality: GenotypeQuality
  all individuals: 1696
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu13His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-149681907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681907
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681907
    reference: chr 5
allele count: 2
allele frequency: 7.913896802785692e-5
allele num: 25272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3732C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3732C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.30C>T
  hgvsp: ENST00000328668.7:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
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 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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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: 1516
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val10Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

5-149681921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681921
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681921
    reference: chr 5
allele count: 1
allele frequency: 5.788376939106274e-5
allele num: 17276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3746G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3746G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.16G>A
  hgvsp: ENSP00000333395.7:p.Gly6Ser
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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 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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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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
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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: 113
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly6Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

5-149681925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681925
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681925
    reference: chr 5
allele count: 1
allele frequency: 6.43915003219575e-5
allele num: 15530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3750C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3750C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.12C>T
  hgvsp: ENST00000328668.7:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  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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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: 1.75e1
  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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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 1.25e1
  variant carriers: 1
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
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu4Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

5-149681940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681940
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 5416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3765G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3765G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-4G>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/5-149681944-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681944
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681944
    reference: chr 5
allele count: 1
allele frequency: 2.615062761506276e-4
allele num: 3824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3769G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-8G>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3769G>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  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 depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-149681946-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681946
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681946
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 3514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3771C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3771C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-10C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  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: 4.75e1
  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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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 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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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
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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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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-149681950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681950
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681950
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 2390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3775G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3775G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-14G>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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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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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  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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  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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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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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

5-149681953-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681953
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681953
    reference: chr 5
allele count: 2
allele frequency: 1.569858712715856e-3
allele num: 1274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3778C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3778C>G
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-17C>G
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36255
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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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  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
  all individuals: 1
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num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-149681960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681960
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681960
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-24C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3785C>T
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3785C>T
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  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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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
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

5-149681962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681962
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681962
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3787G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3787G>A
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-26G>A
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

5-149681983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149681983
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149681983
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 172
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000333395
  ensembl transcript: ENST00000328668
  gene symbol: ARSI
  hgvsc: ENST00000328668.7:c.-47G>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000420955
  ensembl transcript: ENST00000509146
  gene symbol: ARSI
  hgvsc: ENST00000509146.1:c.-118-3808G>C
  variant of: http://identifiers.org/hgnc/32521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183876
  ensembl protein: ENSP00000426879
  ensembl transcript: ENST00000515301
  gene symbol: ARSI
  hgvsc: ENST00000515301.2:c.-118-3808G>C
  variant of: http://identifiers.org/hgnc/32521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  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: 4.75e1
  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: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26579
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 3.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

5-149737264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737264
    reference: chr 5
allele count: 21
allele frequency: 2.904564315352697e-3
allele num: 7230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6386
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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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  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 1
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: 291
  bin: 6.25e1
  variant carriers: 0
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: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-149737271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737271
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737271
    reference: chr 5
allele count: 2
allele frequency: 1.541069502234551e-4
allele num: 12978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-39C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-39C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-39C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  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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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 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
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

5-149737278-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737278
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737278
    reference: chr 5
allele count: 1
allele frequency: 7.535795026375282e-5
allele num: 13270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-32T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-32T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-32T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-32T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-32T>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

5-149737281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737281
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737281
    reference: chr 5
allele count: 11
allele frequency: 8.151771157551504e-4
allele num: 13494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-29A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-149737282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737282
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737282
    reference: chr 5
allele count: 1
allele frequency: 7.371369600471768e-5
allele num: 13566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-28G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

5-149737284-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737284
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737284
    reference: chr 5
allele count: 2
allele frequency: 1.467136150234742e-4
allele num: 13632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-26T>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-149737285-A-AGCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737285
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737289
    reference: chr 5
allele count: 1
allele frequency: 7.271669575334496e-5
allele num: 13752
alternate allele: AGCCG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-15_-12dupCCGG
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-149737291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737291
    reference: chr 5
allele count: 2
allele frequency: 1.421464108031272e-4
allele num: 14070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-149737296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737296
    reference: chr 5
allele count: 1
allele frequency: 6.952169076751947e-5
allele num: 14384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-149737305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737305
    reference: chr 5
allele count: 1
allele frequency: 6.29643621710112e-5
allele num: 15882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-149737306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737306
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737306
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 16044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7985
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/5-149737317-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737317
    reference: chr 5
allele count: 1
allele frequency: 5.871990604815032e-5
allele num: 17030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.8A>C
  hgvsp: ENSP00000406888.2:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.8A>C
  hgvsp: ENSP00000325223.6:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.8A>C
  hgvsp: ENSP00000400939.1:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.8A>C
  hgvsp: ENSP00000421655.2:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.8A>C
  hgvsp: ENSP00000427484.1:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.8A>C
  hgvsp: ENSP00000377811.3:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.8A>C
  hgvsp: ENSP00000409944.2:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.8A>C
  hgvsp: ENSP00000367028.3:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.8A>C
  hgvsp: ENSP00000390717.2:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu3Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

5-149737352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737352
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737352
    reference: chr 5
allele count: 1
allele frequency: 5.458515283842795e-5
allele num: 18320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.43T>C
  hgvsp: ENSP00000406888.2:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.43T>C
  hgvsp: ENSP00000377811.3:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.43T>C
  hgvsp: ENSP00000400939.1:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.43T>C
  hgvsp: ENSP00000421655.2:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.43T>C
  hgvsp: ENSP00000409944.2:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.43T>C
  hgvsp: ENSP00000427484.1:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.43T>C
  hgvsp: ENSP00000367028.3:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.43T>C
  hgvsp: ENSP00000390717.2:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.43T>C
  hgvsp: ENSP00000325223.6:p.Tyr15His
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.7T>C
  hgvsp: ENSP00000426471.1:p.Tyr3His
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10529
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr15His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

5-149737387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737387
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737387
    reference: chr 5
allele count: 1
allele frequency: 5.386189809328881e-5
allele num: 18566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.78G>A
  hgvsp: ENST00000394269.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.78G>A
  hgvsp: ENST00000377797.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.78G>A
  hgvsp: ENST00000439160.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.78G>A
  hgvsp: ENST00000323668.7:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.78G>A
  hgvsp: ENST00000504761.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.78G>A
  hgvsp: ENST00000451292.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.78G>A
  hgvsp: ENST00000513346.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.78G>A
  hgvsp: ENST00000427724.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.78G>A
  hgvsp: ENST00000445265.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.42G>A
  hgvsp: ENST00000515516.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala26Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-149737432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737432
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737432
    reference: chr 5
allele count: 1
allele frequency: 5.580357142857143e-5
allele num: 17920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+15G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

5-149737445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737445
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737445
    reference: chr 5
allele count: 1
allele frequency: 5.701904436081651e-5
allele num: 17538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+28G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-149737450-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737450
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737450
    reference: chr 5
allele count: 1
allele frequency: 5.749108888122341e-5
allele num: 17394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+33G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
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: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-149737456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737456
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737456
    reference: chr 5
allele count: 1
allele frequency: 5.848637267516669e-5
allele num: 17098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+39G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-149737463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737463
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737463
    reference: chr 5
allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+46A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-149737468-AGCGGCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149737468
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149737461
    reference: chr 5
allele count: 28
allele frequency: 1.878438212800215e-3
allele num: 14906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.72+62_72+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.108+62_108+68delGCCCGCG
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: AGCGGCCC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-149740674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740674
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740674
    reference: chr 5
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-45A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-149740679-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740679
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740679
    reference: chr 5
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-40G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-40G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-149740683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740683
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740683
    reference: chr 5
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-36G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
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: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-149740689-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740689
    reference: chr 5
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-30A>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

5-149740689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740689
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-30A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

5-149740691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740691
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740691
    reference: chr 5
allele count: 63
allele frequency: 5.19202241635075e-4
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-28T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-28T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

5-149740703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740703
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740703
    reference: chr 5
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-16C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-16C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

5-149740705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740705
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740705
    reference: chr 5
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-14T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-149740706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740706
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740706
    reference: chr 5
allele count: 116
allele frequency: 9.557866288746437e-4
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-13T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-13T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-149740709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149740709
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149740709
    reference: chr 5
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.73-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.109-10C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.85447233654843e-5
allele num: 63658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 1.334129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.576e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

GenotypeQuality
all individuals: 5769
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582428711586543e-5
allele num: 63194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.602e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: -1.408e0

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

DP
type: SiteQuality
SIO_000300: 1.313345e6

QD
type: SiteQuality
SIO_000300: 1.857e1

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214181641573579e-4
allele num: 8236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.292199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 4.736e0

QD
type: SiteQuality
SIO_000300: 1.377e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60426091699554e-5
allele num: 62334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 1.623e1

VQSLOD
type: SiteQuality
SIO_000300: -3.392e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

FS
type: SiteQuality
SIO_000300: 1.562e0

DP
type: SiteQuality
SIO_000300: 1.278156e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.252191334835963e-4
allele num: 7986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.228e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.296e0

DP
type: SiteQuality
SIO_000300: 1.233166e6

FS
type: SiteQuality
SIO_000300: 4.179e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

QD
type: SiteQuality
SIO_000300: 8.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
all individuals: 265
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8956
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.686279753944904e-5
allele num: 14956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.666e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.07e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 1.205191e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671122994652406e-5
allele num: 59840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

Other
type: Population
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East Asian
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African
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 5050
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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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: 1.72669820768726e-5
allele num: 57914
num of homozygotes: 0

DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 8500
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Other
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African
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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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South Asian
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allele frequency: 7.170514842965726e-5
allele num: 13946
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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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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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.340482573726542e-3
allele num: 6714
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Other
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allele num: 640
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African
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South Asian
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.95381188699152e-5
allele num: 51182
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
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East Asian
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4080
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African
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 6.285355122564425e-4
allele num: 6364
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 48490
num of homozygotes: 0

South Asian
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FS
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 9.52301e5

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.70891150169596e-5
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Latino
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allele frequency: 0.0e0
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African
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East 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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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

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

Other
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South Asian
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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: 2.365296371635366e-5
allele num: 42278
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African
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 7.910140800506249e-5
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num of homozygotes: 0

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

East Asian
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Other
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Latino
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allele frequency: 0.0e0
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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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African
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South Asian
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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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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Other
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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QD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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allele frequency: 7.633587786259542e-4
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European (Finnish)
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Latino
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Other
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South Asian
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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DP
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QD
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Latino
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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MQ
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GenotypeQuality
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variant carriers: 4

Latino
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African
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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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European (Non-Finnish)
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allele frequency: 1.043460113737152e-4
allele num: 38334
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3266
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 5.361930294906166e-5
allele num: 37300
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African
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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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DP
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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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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 3

South Asian
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Latino
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allele frequency: 4.4499822000712e-3
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African
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allele frequency: 5.833905284831846e-2
allele num: 5828
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 2.173913043478261e-3
allele num: 460
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European (Non-Finnish)
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allele frequency: 8.126557590204789e-5
allele num: 36916
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: 4.01e0

GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 5618
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African
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allele frequency: 0.0e0
allele num: 5828
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European (Non-Finnish)
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allele frequency: 2.708852530068263e-5
allele num: 36916
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Other
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 243
allele frequency: 6.742508324084351e-3
allele num: 36040
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East Asian
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Latino
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allele frequency: 7.584165741768406e-3
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European (Finnish)
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allele frequency: 6.600660066006601e-4
allele num: 3030
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African
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allele frequency: 2.515271289974847e-3
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Other
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South Asian
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MQ
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 7.89045e5

ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 4598
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2868
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African
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allele frequency: 1.893939393939394e-4
allele num: 5280
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33626
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Latino
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQ
type: SiteQuality
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DP
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SIO_000300: 7.47468e5

FS
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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allele count: 4
allele frequency: 9.871668311944718e-4
allele num: 4052
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4554
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2384
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4116
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28898
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Other
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allele count: 0
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allele num: 374
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FS
type: SiteQuality
SIO_000300: 3.027e0

MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.85e-2

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 2.922267679719462e-4
allele num: 27376
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African
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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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East Asian
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South Asian
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QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 27376
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Latino
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allele frequency: 0.0e0
allele num: 3836
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East Asian
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allele frequency: 0.0e0
allele num: 3884
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2256
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South Asian
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Other
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allele num: 360
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ReadPosRankSum
type: SiteQuality
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MQ
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

BaseQRankSum
type: SiteQuality
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FS
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QD
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.553319369820599e-5
allele num: 21962
num of homozygotes: 0

East Asian
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Latino
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Other
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 2.524614996213078e-4
allele num: 7922
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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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European (Non-Finnish)
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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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Latino
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African
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

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 frequency: 6.027727546714889e-5
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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ReadPosRankSum
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FS
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QD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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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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European (Non-Finnish)
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African
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allele frequency: 5.102040816326531e-4
allele num: 1960
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Latino
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allele frequency: 6.265664160401002e-4
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East Asian
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South Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.376e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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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
allele num: 1406
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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
allele num: 3824
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.1101243339254e-4
allele num: 9008
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 134
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.36761e5

QD
type: SiteQuality
SIO_000300: 7.84e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

East 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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European (Non-Finnish)
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allele frequency: 1.221597849987784e-4
allele num: 8186
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 118
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South Asian
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allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

FS
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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SIO_000300: 8.95e-1

InbreedingCoeff
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DP
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SIO_000300: 3.17258e5

ClippingRankSum
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QD
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
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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: 304
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.57e-2

DP
type: SiteQuality
SIO_000300: 2.07948e5

ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

South Asian
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allele frequency: 1.689189189189189e-3
allele num: 592
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 342
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.86e-2

DP
type: SiteQuality
SIO_000300: 1.86868e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -1.932e0

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2002
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 344
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South Asian
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allele frequency: 0.0e0
allele num: 546
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Latino
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allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8239e5

MQ
type: SiteQuality
SIO_000300: 5.79e1

VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.26e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.840909090909091e-3
allele num: 704
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 10
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 80
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South Asian
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allele frequency: 0.0e0
allele num: 160
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.669999999999999e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.39441e5

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 6
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 116
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Latino
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allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.021e-1

DP
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SIO_000300: 1.18958e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: 0.0e0

MQ
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 76
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European (Finnish)
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allele frequency: 0.0e0
allele num: 14
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African
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allele frequency: 0.0e0
allele num: 112
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Other
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allele frequency: 0.0e0
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Latino
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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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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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African
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QD
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DP
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 3

Latino
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allele frequency: 8.474576271186441e-3
allele num: 118
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.936108422071636e-3
allele num: 2066
num of homozygotes: 0

African
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allele frequency: 1.838235294117647e-3
allele num: 544
num of homozygotes: 0

Other
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allele frequency: 1.5625e-2
allele num: 64
num of homozygotes: 0

South Asian
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allele count: 14
allele frequency: 3.264925373134328e-3
allele num: 4288
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.79414e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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African
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.076142131979696e-4
allele num: 3940
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.51e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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DP
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele 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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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 192
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 4082
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ReadPosRankSum
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FS
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DP
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.432664756446991e-3
allele num: 7678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
type: SiteQuality
SIO_000300: 2.25937e5

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.302083333333333e-4
allele num: 7680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.22e-1

DP
type: SiteQuality
SIO_000300: 2.27011e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

FS
type: SiteQuality
SIO_000300: 1.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 1.57e1

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.379e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 7.042253521126761e-3
allele num: 284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

DP
type: SiteQuality
SIO_000300: 2.28904e5

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -7.129e-1

GenotypeQuality
all individuals: 1806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.292526364053187e-4
allele num: 4362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.38e-2

QD
type: SiteQuality
SIO_000300: 2.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 2.3033e5

MQ
type: SiteQuality
SIO_000300: 5.728e1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.403346543372963e-4
allele num: 4542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -8.781e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 2.37779e5

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
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GenotypeQuality
all individuals: 1109
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variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
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GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.291655902867476e-4
allele num: 7742
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.592e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.44007e5

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.64963503649635e-3
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 2.59121e5

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.307e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

DP
type: SiteQuality
SIO_000300: 2.61932e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.638e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.465e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.276813074565884e-4
allele num: 7832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.92e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.418037436188315e-4
allele num: 7052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

DP
type: SiteQuality
SIO_000300: 2.91155e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.6e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.383125864453665e-4
allele num: 7230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

FS
type: SiteQuality
SIO_000300: 1.035e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.321e1

DP
type: SiteQuality
SIO_000300: 2.92068e5

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.471453796350795e-4
allele num: 6796
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.933e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.536e1

ClippingRankSum
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SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.737e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.278118609406953e-4
allele num: 7824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.549e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.457e0

DP
type: SiteQuality
SIO_000300: 2.58564e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.479e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.146e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 1.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 2.55053e5

FS
type: SiteQuality
SIO_000300: 2.637e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.594387755102041e-4
allele num: 6272
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 294
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24
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VQSLOD
type: SiteQuality
SIO_000300: -9.907e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.349e0

DP
type: SiteQuality
SIO_000300: 2.51774e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.771793054571226e-4
allele num: 5644
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 362
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.06558223599277e-3
allele num: 7746
num of homozygotes: 0

Latino
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East Asian
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allele count: 7
allele frequency: 2.20125786163522e-2
allele num: 318
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European (Finnish)
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 9.92063492063492e-4
allele num: 5040
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VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 2.45039e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
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East Asian
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 3.233113e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
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SIO_000300: 6.26e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.27e1

DP
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SIO_000300: 3.234648e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.295e0

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.13e-1

QD
type: SiteQuality
SIO_000300: 2.965e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 3.2361e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1913
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variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.923e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

DP
type: SiteQuality
SIO_000300: 3.236878e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.923e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 3.236878e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 63

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

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

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

African
type: Population
allele count: 57
allele frequency: 5.481823427582228e-3
allele num: 10398
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998080614203455e-5
allele num: 66688
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.238548e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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South Asian
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allele num: 16512
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Other
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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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QD
type: SiteQuality
SIO_000300: 1.099e1

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

GenotypeQuality
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variant carriers: 1

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
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African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 114

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

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
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African
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allele count: 109
allele frequency: 1.048076923076923e-2
allele num: 10400
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Latino
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allele count: 6
allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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