21-45987883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987883
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987883
    reference: chr 21
allele count: 3
allele frequency: 2.834199338686821e-5
allele num: 105850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.89G>A
  hgvsp: ENSP00000321987.4:p.Arg30His
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-116G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37946
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg30His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 734
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

21-45987884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987884
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987884
    reference: chr 21
allele count: 18
allele frequency: 1.716018075390394e-4
allele num: 104894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.88C>T
  hgvsp: ENSP00000321987.4:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-117C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg30Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8962
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

21-45987887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987887
    reference: chr 21
allele count: 2
allele frequency: 1.921451079855507e-5
allele num: 104088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.85C>T
  hgvsp: ENST00000323084.4:c.85C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-120C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.75e1
  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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  variant carriers: 1
genotype depth: GenotypeDepth
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  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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  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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  bin: 9.75e1
  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
  all individuals: 35
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  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
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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: 314
  bin: 8.25e1
  variant carriers: 0
hgvs: c.85C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

21-45987895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987895
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987895
    reference: chr 21
allele count: 1
allele frequency: 9.91945403325001e-6
allele num: 100812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-6C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-6C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20439
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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: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 391
  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
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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: 1192
  bin: 3.75e1
  variant carriers: 0
hgvs: c.83-6C>T
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10240
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/21-45987906-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987906
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987906
    reference: chr 21
allele count: 2
allele frequency: 2.075377718744811e-5
allele num: 96368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-17T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-17T>G
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  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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  bin: 9.25e1
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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: 5.25e1
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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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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 16716
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5464
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-45987914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987914
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987914
    reference: chr 21
allele count: 1
allele frequency: 1.082415084536618e-5
allele num: 92386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-25C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-25C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  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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genotype depth: GenotypeDepth
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  bin: 2.5e0
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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 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: 17
  bin: 7.25e1
  variant carriers: 0
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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  bin: 2.25e1
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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: 165
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.855356413967123e-5
  allele num: 53898
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-45987914-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987914
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987914
    reference: chr 21
allele count: 9
allele frequency: 9.741735760829563e-5
allele num: 92386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-25C>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-25C>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 3
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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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: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7592
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/21-45987920-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987920
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987920
    reference: chr 21
allele count: 17
allele frequency: 1.910284070478245e-4
allele num: 88992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-31G>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-31G>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6886
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

21-45987928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987928
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987928
    reference: chr 21
allele count: 4
allele frequency: 4.69164184006193e-5
allele num: 85258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-39G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-39G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 49970
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

21-45987940-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45987940
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45987940
    reference: chr 21
allele count: 1
allele frequency: 1.246509772636617e-5
allele num: 80224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-122-51C>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-51C>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7532
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

21-45993586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993586
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993586
    reference: chr 21
allele count: 11
allele frequency: 9.690434660041934e-5
allele num: 113514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5697G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+71G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15826
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 19696
  bin: 9.75e1
  variant carriers: 10
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
  all individuals: 13
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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: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8576
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-45993591-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993591
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993591
    reference: chr 21
allele count: 274
allele frequency: 2.412778922526902e-3
allele num: 113562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5702G>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+66G>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 9.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 11434
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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
  all individuals: 637
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  variant carriers: 18
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 802
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genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 273
genotype quality: GenotypeQuality
  all individuals: 2327
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  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.165772907437631e-4
  allele num: 8578
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

21-45993598-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993598
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993598
    reference: chr 21
allele count: 2
allele frequency: 1.757716374885749e-5
allele num: 113784
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5709A>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+59A>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
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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
  all individuals: 3474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11474
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

21-45993600-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993600
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993600
    reference: chr 21
allele count: 1
allele frequency: 8.78780955059142e-6
allele num: 113794
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5711A>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+57A>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9740
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

21-45993600-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993600
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993599
    reference: chr 21
allele count: 1
allele frequency: 8.78780955059142e-6
allele num: 113794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+56delG
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5712delG
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8582
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: TC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

21-45993602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993602
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993602
    reference: chr 21
allele count: 1
allele frequency: 8.779322938614974e-6
allele num: 113904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5713G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+55G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 633
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genotype quality: GenotypeQuality
  all individuals: 233
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9746
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-45993608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993608
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993608
    reference: chr 21
allele count: 1
allele frequency: 8.752275591653831e-6
allele num: 114256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5719G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-28C>T
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+49G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-45993611-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993611
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993611
    reference: chr 21
allele count: 1
allele frequency: 8.727526618956187e-6
allele num: 114580
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5722T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-25A>C
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+46T>G
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/21-45993612-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993612
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993611
    reference: chr 21
allele count: 3
allele frequency: 2.616933303093215e-5
allele num: 114638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+44delG
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5724delG
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-19delC
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19478
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-45993613-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993613
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993613
    reference: chr 21
allele count: 1
allele frequency: 8.721893697559614e-6
allele num: 114654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5724G>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-23C>A
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+44G>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 550
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 280
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
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genotype quality: GenotypeQuality
  all individuals: 6854
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genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16467
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

21-45993616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993616
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993616
    reference: chr 21
allele count: 1
allele frequency: 8.689154197730393e-6
allele num: 115086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-20C>T
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5727G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+41G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
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genotype quality: GenotypeQuality
  all individuals: 19476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

21-45993622-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993622
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993622
    reference: chr 21
allele count: 1
allele frequency: 8.640801866413203e-6
allele num: 115730
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-14C>G
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5733G>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+35G>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-45993622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993622
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993622
    reference: chr 21
allele count: 5
allele frequency: 4.320400933206602e-5
allele num: 115730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+35G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5733G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19475
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

21-45993623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993623
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993623
    reference: chr 21
allele count: 16
allele frequency: 1.379905131522208e-4
allele num: 115950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+34T>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-13A>G
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5734T>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19476
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 17056
  bin: 6.25e1
  variant carriers: 0
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: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-45993624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993624
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993624
    reference: chr 21
allele count: 1
allele frequency: 8.617569500698023e-6
allele num: 116042
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-12G>A
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+33C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5735C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
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
  all individuals: 280
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 17158
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 444
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 461
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genotype quality: GenotypeQuality
  all individuals: 2335
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19477
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-45993626-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993626
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993626
    reference: chr 21
allele count: 5
allele frequency: 4.294942275975811e-5
allele num: 116416
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-10A>C
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+31T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5737T>G
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19476
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

21-45993626-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993626
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993626
    reference: chr 21
allele count: 11
allele frequency: 9.448873007146783e-5
allele num: 116416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+31T>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-10A>T
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5737T>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19476
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-45993629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993629
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993629
    reference: chr 21
allele count: 15
allele frequency: 1.282095114362884e-4
allele num: 116996
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5740T>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.-7A>G
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+28T>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19472
  bin: 9.75e1
  variant carriers: 15
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

21-45993637-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993637
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993637
    reference: chr 21
allele count: 1
allele frequency: 8.468691248454463e-6
allele num: 118082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5748A>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+20A>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.2T>G
  hgvsp: ENSP00000383225.3:p.Met1?
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

21-45993641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993641
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993641
    reference: chr 21
allele count: 8
allele frequency: 6.7500295313792e-5
allele num: 118518
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.6C>T
  hgvsp: ENST00000400374.3:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+16G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5752G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19466
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-45993642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993642
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993642
    reference: chr 21
allele count: 5
allele frequency: 4.209959079197751e-5
allele num: 118766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5753C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.7G>A
  hgvsp: ENSP00000383225.3:p.Val3Ile
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+15C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19463
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val3Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

21-45993643-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993643
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993643
    reference: chr 21
allele count: 3
allele frequency: 2.522958926228681e-5
allele num: 118908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.8T>A
  hgvsp: ENSP00000383225.3:p.Val3Asp
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5754A>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+14A>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19461
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val3Asp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-45993643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993643
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993643
    reference: chr 21
allele count: 1
allele frequency: 8.409863087428936e-6
allele num: 118908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5754A>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.8T>C
  hgvsp: ENSP00000383225.3:p.Val3Ala
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+14A>G
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val3Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

21-45993646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993646
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993646
    reference: chr 21
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+11C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5757C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.11G>A
  hgvsp: ENSP00000383225.3:p.Cys4Tyr
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys4Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-45993649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993649
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993649
    reference: chr 21
allele count: 15
allele frequency: 1.25445330924783e-4
allele num: 119574
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5760G>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.14C>G
  hgvsp: ENSP00000383225.3:p.Ser5Cys
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+8G>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19469
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser5Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

21-45993653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993653
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993653
    reference: chr 21
allele count: 3
allele frequency: 2.503504906869618e-5
allele num: 119832
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.18C>T
  hgvsp: ENST00000400374.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+4G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5764G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.75e1
  variant carriers: 0
hgvs: c.-123+4G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

21-45993655-A-ACCTGAGCTACAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993655
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993668
    reference: chr 21
allele count: 7
allele frequency: 5.833527784259475e-5
allele num: 119996
alternate allele: ACCTGAGCTACAGC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsp: ENSP00000383225.3:p.Ser12ProfsTer14
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  variant of: http://identifiers.org/hgnc/1268
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19416
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: c.-134_-123+1dupGCTGTAGCTCAGG
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

21-45993656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993656
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993656
    reference: chr 21
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-123+1G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5767G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.21C>T
  hgvsp: ENST00000400374.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
hgvs: c.-123+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS

21-45993658-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993658
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993658
    reference: chr 21
allele count: 2
allele frequency: 1.663672056964131e-5
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-124A>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5769A>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.23T>A
  hgvsp: ENSP00000383225.3:p.Leu8Gln
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19430
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu8Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-45993665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993665
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993665
    reference: chr 21
allele count: 6
allele frequency: 4.984299456711359e-5
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-131G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.30C>T
  hgvsp: ENST00000400374.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5776G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19429
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr10Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-45993666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993666
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993666
    reference: chr 21
allele count: 1471
allele frequency: 1.221598458676588e-2
allele num: 120416
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5777T>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-132T>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.31A>G
  hgvsp: ENSP00000383225.3:p.Ser11Gly
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 9.75e1
  variant carriers: 1006
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7376
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19819
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19597
  bin: 9.75e1
  variant carriers: 1404
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Ser11Gly
num of homozygotes: 35
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

21-45993668-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993668
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993668
    reference: chr 21
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.33C>G
  hgvsp: ENSP00000383225.3:p.Ser11Arg
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5779G>C
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-134G>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser11Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

21-45993672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993672
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993672
    reference: chr 21
allele count: 5
allele frequency: 4.150824353716648e-5
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-138G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5783G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.37C>T
  hgvsp: ENSP00000383225.3:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18731
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg13Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-45993673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993673
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993673
    reference: chr 21
allele count: 34
allele frequency: 2.822138849231382e-4
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.38G>A
  hgvsp: ENSP00000383225.3:p.Arg13His
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-139C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5784C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18730
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg13His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-45993674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993674
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993674
    reference: chr 21
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5785G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.39C>T
  hgvsp: ENST00000400374.3:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg13Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-45993675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993675
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993675
    reference: chr 21
allele count: 1102
allele frequency: 9.15358418473295e-3
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5786C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.40G>A
  hgvsp: ENSP00000383225.3:p.Val14Ile
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20267
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18736
  bin: 9.75e1
  variant carriers: 1078
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val14Ile
num of homozygotes: 21
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

21-45993677-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993677
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993678
    reference: chr 21
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5789dupA
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.43dupT
  hgvsp: ENSP00000383225.3:p.Cys15LeufsTer7
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-144dupA
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17808
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys15LeufsTer7
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

21-45993681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993681
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993681
    reference: chr 21
allele count: 12
allele frequency: 9.959828690946516e-5
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5792G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.46C>T
  hgvsp: ENSP00000383225.3:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-147G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17808
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu16Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

21-45993688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993688
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993688
    reference: chr 21
allele count: 2
allele frequency: 1.65977858553669e-5
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.53G>A
  hgvsp: ENSP00000383225.3:p.Gly18Asp
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5799C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000381012
  ensembl transcript: ENST00000397916
  gene symbol: TSPEAR
  hgvsc: ENST00000397916.1:c.-154C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17804
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly18Asp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-45993696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993696
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993696
    reference: chr 21
allele count: 2
allele frequency: 1.659861235600704e-5
allele num: 120492
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5807C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.61G>A
  hgvsp: ENSP00000383225.3:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17802
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp21Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

21-45993703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993703
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993703
    reference: chr 21
allele count: 3
allele frequency: 2.48987451032468e-5
allele num: 120488
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.68G>A
  hgvsp: ENSP00000383225.3:p.Cys23Tyr
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5814C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17801
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys23Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66614
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-45993704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993704
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993704
    reference: chr 21
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5815G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.69C>T
  hgvsp: ENST00000400374.3:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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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
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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: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2927
  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
  all individuals: 2949
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys23Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

21-45993707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993707
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993707
    reference: chr 21
allele count: 32
allele frequency: 2.656483479993359e-4
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5818G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.72C>T
  hgvsp: ENST00000400374.3:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  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
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genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser24Ser
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

21-45993717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993717
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993717
    reference: chr 21
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5828G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.82C>T
  hgvsp: ENSP00000383225.3:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  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
  all individuals: 510
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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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: 7.75e1
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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
  all individuals: 335
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  variant carriers: 0
hgvs: p.Gln28Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16350
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-45993718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993718
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993718
    reference: chr 21
allele count: 5
allele frequency: 4.152479029980898e-5
allele num: 120410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5829T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.83A>C
  hgvsp: ENSP00000383225.3:p.Gln28Pro
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  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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  bin: 9.75e1
  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
  all individuals: 4062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17766
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln28Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16348
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

21-45993720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993720
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993720
    reference: chr 21
allele count: 3
allele frequency: 2.492108323641801e-5
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.85G>A
  hgvsp: ENSP00000383225.3:p.Val29Met
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5831C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17763
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20132
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val29Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.64902266043937e-5
  allele num: 11562
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-45993722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993722
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993722
    reference: chr 21
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5833C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.87G>A
  hgvsp: ENST00000400374.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
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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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3727
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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: 143
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val29Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66548
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-45993724-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993724
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993724
    reference: chr 21
allele count: 3
allele frequency: 2.493102416647276e-5
allele num: 120332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5835T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.89A>C
  hgvsp: ENSP00000383225.3:p.Asp30Ala
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17760
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 459
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 7626
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp30Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9776
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

21-45993725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993725
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993725
    reference: chr 21
allele count: 23
allele frequency: 1.911378519429578e-4
allele num: 120332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.90C>T
  hgvsp: ENST00000400374.3:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5836G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17764
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp30Asp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.118453255017132e-5
  allele num: 16344
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

21-45993726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993726
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993726
    reference: chr 21
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5837C>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.91G>A
  hgvsp: ENSP00000383225.3:p.Asp31Asn
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17758
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp31Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6606
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/21-45993727-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993727
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993727
    reference: chr 21
allele count: 4319
allele frequency: 3.590967291351414e-2
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5838T>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.92A>C
  hgvsp: ENSP00000383225.3:p.Asp31Ala
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 5.25e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 4.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 4.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 3.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.75e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 6.25e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 3.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18498
  bin: 9.75e1
  variant carriers: 4098
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19608
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 168
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 6
hgvs: p.Asp31Ala
num of homozygotes: 152
population: East Asian
  type: Population
  allele count: 1148
  allele frequency: 1.334573355033713e-1
  allele num: 8602
  num of homozygotes: 74
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

21-45993734-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993734
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993734
    reference: chr 21
allele count: 2
allele frequency: 1.664946222237022e-5
allele num: 120124
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.99A>G
  hgvsp: ENST00000400374.3:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5845T>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20841
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
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genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
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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: 15046
  bin: 9.75e1
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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: 2408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro33Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66432
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

21-45993735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993735
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993735
    reference: chr 21
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.100G>A
  hgvsp: ENSP00000383225.3:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5846C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu34Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9716
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

21-45993737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993737
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993737
    reference: chr 21
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.102G>A
  hgvsp: ENST00000400374.3:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5848C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19753
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu34Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11516
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-45993739-GCTGCTGCGAGCCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993739
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993724
    reference: chr 21
allele count: 12
allele frequency: 1.002087682672234e-4
allele num: 119750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsp: ENSP00000383225.3:p.Glu38_Cys42del
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15050
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu38_Cys42del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16296
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: GCTGCTGCGAGCCCCC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

21-45993745-GCGAGCCCCCCTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993745
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993732
    reference: chr 21
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsp: ENSP00000383225.3:p.Glu38AlafsTer12
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu38AlafsTer12
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512401693889897e-5
  allele num: 66120
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: GCGAGCCCCCCTGC
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-45993746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993746
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993746
    reference: chr 21
allele count: 16199
allele frequency: 1.361168997042216e-1
allele num: 119008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.111C>T
  hgvsp: ENST00000400374.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5857G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.75e1
  variant carriers: 1859
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 857
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 5.25e1
  variant carriers: 1414
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.75e1
  variant carriers: 1171
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 3.25e1
  variant carriers: 1585
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 6.25e1
  variant carriers: 825
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 4.25e1
  variant carriers: 1903
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 2.75e1
  variant carriers: 1281
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 4.75e1
  variant carriers: 1767
genotype quality: GenotypeQuality
  all individuals: 18071
  bin: 6.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 20871
  bin: 9.75e1
  variant carriers: 14390
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 9.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 35
hgvs: p.Cys37Cys
num of homozygotes: 1130
population: East Asian
  type: Population
  allele count: 1259
  allele frequency: 1.485721029029974e-1
  allele num: 8474
  num of homozygotes: 82
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-45993747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993747
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993747
    reference: chr 21
allele count: 2
allele frequency: 1.680389850445303e-5
allele num: 119020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.112G>A
  hgvsp: ENSP00000383225.3:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5858C>T
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu38Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.174812030075188e-4
  allele num: 8512
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

21-45993747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993747
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993747
    reference: chr 21
allele count: 1
allele frequency: 8.401949252226517e-6
allele num: 119020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5858C>G
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.112G>C
  hgvsp: ENSP00000383225.3:p.Glu38Gln
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu38Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6546
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-45993749-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993749
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993750
    reference: chr 21
allele count: 2
allele frequency: 1.681972617485787e-5
allele num: 118908
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.120dupC
  hgvsp: ENSP00000383225.3:p.Cys41LeufsTer54
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5861dupG
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9821
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys41LeufsTer54
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6542
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

21-45993749-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993749
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993748
    reference: chr 21
allele count: 3
allele frequency: 2.522958926228681e-5
allele num: 118908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.120delC
  hgvsp: ENSP00000383225.3:p.Cys41AlafsTer13
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5861delG
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 16191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9821
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys41AlafsTer13
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: GC
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/21-45993751-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993751
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993751
    reference: chr 21
allele count: 3
allele frequency: 2.532115667043671e-5
allele num: 118478
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5862G>T
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.116C>A
  hgvsp: ENSP00000383225.3:p.Pro39His
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9819
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro39His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65630
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

21-45993752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993752
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993752
    reference: chr 21
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.117C>T
  hgvsp: ENST00000400374.3:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5863G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro39Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8444
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

21-45993753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993753
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993753
    reference: chr 21
allele count: 3
allele frequency: 2.546257002206756e-5
allele num: 117820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5864G>A
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.118C>T
  hgvsp: ENSP00000383225.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9824
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro40Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.112594570538496e-4
  allele num: 8988
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-45993753-CCCTGCTGCGCCCCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993753
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993738
    reference: chr 21
allele count: 27
allele frequency: 2.291631301986081e-4
allele num: 117820
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  variant of: http://identifiers.org/hgnc/1268
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  variant of: http://identifiers.org/hgnc/20521
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15543
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9824
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 20014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro40_Ser45delinsArg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6528
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: CCCTGCTGCGCCCCCA
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

21-45993754-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993754
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993754
    reference: chr 21
allele count: 2
allele frequency: 1.69485780143046e-5
allele num: 118004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.119C>G
  hgvsp: ENSP00000383225.3:p.Pro40Arg
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5865G>C
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro40Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65450
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

21-45993754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45993754
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 45993754
    reference: chr 21
allele count: 5
allele frequency: 4.23714450357615e-5
allele num: 118004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215454
  ensembl protein: ENSP00000383225
  ensembl transcript: ENST00000400374
  gene symbol: KRTAP10-4
  hgvsc: ENST00000400374.3:c.119C>T
  hgvsp: ENSP00000383225.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/20521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175894
  ensembl protein: ENSP00000321987
  ensembl transcript: ENST00000323084
  gene symbol: TSPEAR
  hgvsc: ENST00000323084.4:c.83-5865G>A
  variant of: http://identifiers.org/hgnc/1268
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15585
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro40Leu
num of homozygotes: 0
reference allele: C

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633666601320003e-5
allele num: 61212
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.833852924995415e-4
allele num: 10906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 3.112e0

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.283695e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.961110745541883e-4
allele num: 60788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 1.267901e6

FS
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.311806590495115e-5
allele num: 60390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.777e-1

FS
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

DP
type: SiteQuality
SIO_000300: 1.248358e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704797299601078e-5
allele num: 58658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.176762e6

MQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e0

QD
type: SiteQuality
SIO_000300: 1.194e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.561253561253561e-5
allele num: 56160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 1.509e0

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 1.047056e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 9.18152e5

FS
type: SiteQuality
SIO_000300: 1.241e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.2e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.669820772570411e-4
allele num: 53898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 1.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

DP
type: SiteQuality
SIO_000300: 9.18152e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.3268546400219e-3
allele num: 7306
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52050
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 8.61152e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 2.309e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.272e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.580152671755725e-4
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.856e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 8.23295e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.661129568106312e-4
allele num: 6020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47266
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.98332e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 9.746588693957114e-4
allele num: 11286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64966
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 2.471539e6

MQ
type: SiteQuality
SIO_000300: 5.416e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

European (Non-Finnish)
type: Population
allele count: 250
allele frequency: 3.847219229940599e-3
allele num: 64982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.817929117442669e-4
allele num: 11512
num of homozygotes: 1

African
type: Population
allele count: 10
allele frequency: 1.027749229188078e-3
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
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Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.47e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.311e0

QD
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SIO_000300: 1.326e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.075598203850649e-5
allele num: 65028
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: -2.019e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
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SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 2.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.463e1

DP
type: SiteQuality
SIO_000300: 2.452459e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

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

Latino
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allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.453111e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.293e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.453111e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 4.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

QD
type: SiteQuality
SIO_000300: 7.04e0

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: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65072
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.087e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.454263e6

MQ
type: SiteQuality
SIO_000300: 5.245e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.53e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
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: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 2.45781e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.162e0

FS
type: SiteQuality
SIO_000300: 1.786e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.025851456709069e-4
allele num: 9748
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65230
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.460171e6

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.717e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.231e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
all individuals: 6849
bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.655903295247558e-4
allele num: 12078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.460825e6

QD
type: SiteQuality
SIO_000300: 1.036e1

MQRankSum
type: SiteQuality
SIO_000300: -1.405e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.192e1

FS
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529800514012973e-5
allele num: 65368
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

East Asian
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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: 65514
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African
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allele count: 0
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Other
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MQRankSum
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MQ
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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
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65514
num of homozygotes: 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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South Asian
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allele frequency: 1.557389814670612e-4
allele num: 12842
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East Asian
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Latino
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allele frequency: 2.599653379549393e-4
allele num: 11540
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele num: 8604
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.538461538461539e-4
allele num: 13000
num of homozygotes: 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: 11
allele frequency: 1.125434827092286e-3
allele num: 9774
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Latino
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allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65564
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Other
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allele count: 0
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allele num: 852
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele num: 11544
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Other
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African
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

Other
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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Latino
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allele frequency: 2.597402597402597e-4
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East Asian
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African
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South Asian
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allele count: 2
allele frequency: 1.501276084671971e-4
allele num: 13322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.439e0

DP
type: SiteQuality
SIO_000300: 2.478695e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 4.9e1

QD
type: SiteQuality
SIO_000300: 8.32e0

GenotypeQuality
all individuals: 2813
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.124744376278119e-3
allele num: 9780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13322
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.32e0

VQSLOD
type: SiteQuality
SIO_000300: -2.439e0

MQ
type: SiteQuality
SIO_000300: 4.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.478695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0389594602808e-5
allele num: 65812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.823263939438055e-4
allele num: 13738
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.069e0

DP
type: SiteQuality
SIO_000300: 2.484737e6

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

MQ
type: SiteQuality
SIO_000300: 5.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 9.16e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.54e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.496052e6

VQSLOD
type: SiteQuality
SIO_000300: -8.991e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.079967360261118e-4
allele num: 9804
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.349527665317139e-4
allele num: 14820
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: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.50209e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.424e0

VQSLOD
type: SiteQuality
SIO_000300: -4.836e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

MQ
type: SiteQuality
SIO_000300: 5.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
all individuals: 3582
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.039983680130559e-4
allele num: 9804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.661337596589395e-5
allele num: 15012
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018230109863576e-5
allele num: 66264
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.504638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.272e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15114
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524886877828054e-5
allele num: 66300
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.505701e6

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

MQ
type: SiteQuality
SIO_000300: 5.351e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 2.505701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.731e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.081e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 2.509871e6

MQ
type: SiteQuality
SIO_000300: 5.327e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
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allele count: 15
allele frequency: 9.603072983354673e-4
allele num: 15620
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.513978e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.74e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.848e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 3.058727569331158e-4
allele num: 9808
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.151e1

DP
type: SiteQuality
SIO_000300: 2.517196e6

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6556
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 count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.052156921689463e-4
allele num: 66530
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.5723e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.51861e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
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allele num: 8628
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele num: 16062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.99e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66558
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South Asian
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allele count: 2
allele frequency: 1.239618197595141e-4
allele num: 16134
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -4.024e0

MQRankSum
type: SiteQuality
SIO_000300: -3.152e0

QD
type: SiteQuality
SIO_000300: 6.7e0

DP
type: SiteQuality
SIO_000300: 2.520553e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

MQ
type: SiteQuality
SIO_000300: 4.861e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.074e0

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 61
allele frequency: 9.222860598729966e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 89
allele frequency: 5.45543704793429e-3
allele num: 16314
num of homozygotes: 1

East Asian
type: Population
allele count: 94
allele frequency: 1.089476124246639e-2
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 256
allele frequency: 3.843959278056398e-3
allele num: 66598
num of homozygotes: 1

Other
type: Population
allele count: 10
allele frequency: 1.11358574610245e-2
allele num: 898
num of homozygotes: 1

Latino
type: Population
allele count: 102
allele frequency: 8.814379536812997e-3
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 859
allele frequency: 8.772467320261437e-2
allele num: 9792
num of homozygotes: 32

FS
type: SiteQuality
SIO_000300: 1.2333e1

MQ
type: SiteQuality
SIO_000300: 4.752e1

QD
type: SiteQuality
SIO_000300: 1.258e1

MQRankSum
type: SiteQuality
SIO_000300: -2.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 2.556269e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

GenotypeQuality
all individuals: 3690
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 6.542e0

QD
type: SiteQuality
SIO_000300: 1.274e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.462859e6

VQSLOD
type: SiteQuality
SIO_000300: -1.789e0

MQ
type: SiteQuality
SIO_000300: 5.273e1

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.225340031858841e-4
allele num: 16322
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: 900
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East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9822
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DP
type: SiteQuality
SIO_000300: 2.462949e6

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

MQ
type: SiteQuality
SIO_000300: 5.005e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.954508602828574e-4
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9820
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VQSLOD
type: SiteQuality
SIO_000300: -4.496e-1

DP
type: SiteQuality
SIO_000300: 2.463857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 2.460076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.176e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 116
allele frequency: 1.3441483198146e-2
allele num: 8630
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: 4
allele frequency: 4.434589800443459e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 360
allele frequency: 3.699897225077081e-2
allele num: 9730
num of homozygotes: 3

Latino
type: Population
allele count: 559
allele frequency: 4.830625648116142e-2
allele num: 11572
num of homozygotes: 18

South Asian
type: Population
allele count: 55
allele frequency: 3.367209501652994e-3
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201056930098487e-4
allele num: 66608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.599e-1

DP
type: SiteQuality
SIO_000300: 2.482097e6

FS
type: SiteQuality
SIO_000300: 3.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQ
type: SiteQuality
SIO_000300: 4.809e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

GenotypeQuality
all individuals: 2956
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
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: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.298e1

DP
type: SiteQuality
SIO_000300: 2.37312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.651354110370504e-4
allele num: 66612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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African
type: Population
allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 1.213e0

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 4.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

VQSLOD
type: SiteQuality
SIO_000300: -5.647e-1

DP
type: SiteQuality
SIO_000300: 2.373084e6

GenotypeQuality
all individuals: 2931
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.691e1

QD
type: SiteQuality
SIO_000300: 9.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.965e0

DP
type: SiteQuality
SIO_000300: 2.371867e6

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 2.371633e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.139e0

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

MQ
type: SiteQuality
SIO_000300: 4.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.926e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.112e0

MQ
type: SiteQuality
SIO_000300: 4.219e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.107e0

DP
type: SiteQuality
SIO_000300: 2.371221e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

African
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allele count: 2
allele frequency: 2.041232904674423e-4
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.969416126042632e-3
allele num: 8632
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.11545988258317e-4
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

FS
type: SiteQuality
SIO_000300: 5.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 4.292e1

DP
type: SiteQuality
SIO_000300: 2.371036e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

QD
type: SiteQuality
SIO_000300: 1.244e1

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.662000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.817e0

DP
type: SiteQuality
SIO_000300: 2.366471e6

QD
type: SiteQuality
SIO_000300: 1.005e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.548e0

MQ
type: SiteQuality
SIO_000300: 4.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506263706552107e-5
allele num: 66574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
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FS
type: SiteQuality
SIO_000300: 3.306e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.193e0

DP
type: SiteQuality
SIO_000300: 2.366006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.863e0

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 3.924e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.044153720359771e-4
allele num: 9784
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
type: Population
allele count: 0
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allele num: 898
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 2.363218e6

MQ
type: SiteQuality
SIO_000300: 3.571e1

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.009e0

FS
type: SiteQuality
SIO_000300: 8.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.75e0

QD
type: SiteQuality
SIO_000300: 7.46e0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

QD
type: SiteQuality
SIO_000300: 2.709e1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 2.362316e6

MQ
type: SiteQuality
SIO_000300: 3.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

DP
type: SiteQuality
SIO_000300: 2.36006e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 3.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

VQSLOD
type: SiteQuality
SIO_000300: -2.926e0

FS
type: SiteQuality
SIO_000300: 1.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

African
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allele count: 6
allele frequency: 6.138735420503376e-4
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20242890639091e-4
allele num: 66532
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 3.797e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.359909e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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FS
type: SiteQuality
SIO_000300: 1.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

MQ
type: SiteQuality
SIO_000300: 3.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

VQSLOD
type: SiteQuality
SIO_000300: -2.656e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.358145e6

European (Finnish)
type: Population
allele count: 84
allele frequency: 1.271186440677966e-2
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1358
allele frequency: 2.041491280817799e-2
allele num: 66520
num of homozygotes: 14

South Asian
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allele count: 836
allele frequency: 5.115026921194322e-2
allele num: 16344
num of homozygotes: 36

African
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allele count: 581
allele frequency: 5.954088952654232e-2
allele num: 9758
num of homozygotes: 23

Latino
type: Population
allele count: 287
allele frequency: 2.485709336566776e-2
allele num: 11546
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Other
type: Population
allele count: 25
allele frequency: 2.790178571428572e-2
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 2.351379e6

FS
type: SiteQuality
SIO_000300: 5.109e0

MQ
type: SiteQuality
SIO_000300: 3.665e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

Other
type: Population
allele count: 0
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allele num: 896
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South Asian
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allele num: 16314
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East Asian
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allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 3.574e1

QD
type: SiteQuality
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DP
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SIO_000300: 2.220322e6

FS
type: SiteQuality
SIO_000300: 9.531000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

Other
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Latino
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
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SIO_000300: 2.210502e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 3.434e1

FS
type: SiteQuality
SIO_000300: 9.047000000000001e0

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.313e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9684
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
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SIO_000300: 2.19418e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.908e0

MQ
type: SiteQuality
SIO_000300: 2.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.093e0

QD
type: SiteQuality
SIO_000300: 3.053e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

Latino
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allele count: 9
allele frequency: 7.820646506777894e-4
allele num: 11508
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.065688907250568e-4
allele num: 9682
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.191e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQ
type: SiteQuality
SIO_000300: 3.345e1

DP
type: SiteQuality
SIO_000300: 2.192461e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.45e-1

QD
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 2.066e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
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SIO_000300: 2.18013e6

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

QD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.192e0

Other
type: Population
allele count: 119
allele frequency: 1.346153846153846e-1
allele num: 884
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African
type: Population
allele count: 977
allele frequency: 1.026476150451776e-1
allele num: 9518
num of homozygotes: 40

European (Non-Finnish)
type: Population
allele count: 8459
allele frequency: 1.282910701286096e-1
allele num: 65936
num of homozygotes: 507

European (Finnish)
type: Population
allele count: 918
allele frequency: 1.401098901098901e-1
allele num: 6552
num of homozygotes: 54

Latino
type: Population
allele count: 807
allele frequency: 7.052962768746722e-2
allele num: 11442
num of homozygotes: 34

South Asian
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allele count: 3660
allele frequency: 2.258980372793482e-1
allele num: 16202
num of homozygotes: 402

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

DP
type: SiteQuality
SIO_000300: 2.167626e6

VQSLOD
type: SiteQuality
SIO_000300: -3.607e0

MQ
type: SiteQuality
SIO_000300: 2.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.132711885195633e-5
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 880
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 3.05e1

VQSLOD
type: SiteQuality
SIO_000300: -7.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 2.0787e1

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.983634e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049097775912715e-4
allele num: 9532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 3.05e1

DP
type: SiteQuality
SIO_000300: 1.983634e6

FS
type: SiteQuality
SIO_000300: 2.0787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

VQSLOD
type: SiteQuality
SIO_000300: -7.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

Latino
type: Population
allele count: 2
allele frequency: 1.754385964912281e-4
allele num: 11400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 2.902e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.4443e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 1.979734e6

QD
type: SiteQuality
SIO_000300: 1.597e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.842299189388357e-4
allele num: 16284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.979734e6

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

QD
type: SiteQuality
SIO_000300: 1.597e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.4443e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 2.902e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.844111138431276e-4
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

VQSLOD
type: SiteQuality
SIO_000300: -3.867e0

MQ
type: SiteQuality
SIO_000300: 3.011e1

DP
type: SiteQuality
SIO_000300: 1.962294e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
SIO_000300: 2.038e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 9.558e0

MQ
type: SiteQuality
SIO_000300: 2.783e1

VQSLOD
type: SiteQuality
SIO_000300: -5.14e0

DP
type: SiteQuality
SIO_000300: 1.962173e6

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230163611760364e-4
allele num: 16258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.145e1

FS
type: SiteQuality
SIO_000300: 1.5581e1

VQSLOD
type: SiteQuality
SIO_000300: -2.433e0

DP
type: SiteQuality
SIO_000300: 1.950254e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.266e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.652050919377652e-4
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.55896751223854e-3
allele num: 8988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.433e0

MQ
type: SiteQuality
SIO_000300: 3.145e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.5581e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 1.950254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.64e-2

FS
type: SiteQuality
SIO_000300: 5.4945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 2.993e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.935662e6