6-17688803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688803
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688803
    reference: chr 6
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.158G>C
  hgvsp: ENSP00000444029.1:p.Gly53Ala
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.158G>C
  hgvsp: ENSP00000262077.2:p.Gly53Ala
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly53Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-17688805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688805
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688805
    reference: chr 6
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.156A>G
  hgvsp: ENST00000262077.2:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.156A>G
  hgvsp: ENST00000537253.1:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6023
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro52Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-17688813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688813
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688813
    reference: chr 6
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.148A>G
  hgvsp: ENSP00000444029.1:p.Ile50Val
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.148A>G
  hgvsp: ENSP00000262077.2:p.Ile50Val
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  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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  bin: 7.25e1
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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: 1108
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile50Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

6-17688815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688815
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688815
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.146A>G
  hgvsp: ENSP00000444029.1:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.146A>G
  hgvsp: ENSP00000262077.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn49Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-17688815-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688815
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688815
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.146A>C
  hgvsp: ENSP00000444029.1:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.146A>C
  hgvsp: ENSP00000262077.2:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn49Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498980693128672e-5
  allele num: 66712
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

6-17688821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688821
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688821
    reference: chr 6
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.140T>C
  hgvsp: ENSP00000262077.2:p.Val47Ala
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.140T>C
  hgvsp: ENSP00000444029.1:p.Val47Ala
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8830
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val47Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499160470136723e-5
  allele num: 66704
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-17688823-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688823
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688823
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.138T>G
  hgvsp: ENST00000262077.2:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.138T>G
  hgvsp: ENST00000537253.1:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser46Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-17688831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688831
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688831
    reference: chr 6
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.130A>G
  hgvsp: ENSP00000444029.1:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.130A>G
  hgvsp: ENSP00000262077.2:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1105
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genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr44Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10378
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

6-17688838-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688838
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688838
    reference: chr 6
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.123C>A
  hgvsp: ENSP00000444029.1:p.Ser41Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.123C>A
  hgvsp: ENSP00000262077.2:p.Ser41Arg
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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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: 109
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser41Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500375093773443e-5
  allele num: 66650
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

6-17688839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688839
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688839
    reference: chr 6
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.122G>A
  hgvsp: ENSP00000444029.1:p.Ser41Asn
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.122G>A
  hgvsp: ENSP00000262077.2:p.Ser41Asn
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 200
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genotype depth: GenotypeDepth
  all individuals: 83
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ser41Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

6-17688840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688840
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688840
    reference: chr 6
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.121A>G
  hgvsp: ENSP00000262077.2:p.Ser41Gly
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.121A>G
  hgvsp: ENSP00000444029.1:p.Ser41Gly
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ser41Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.070171178827243e-5
  allele num: 16474
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

6-17688853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688853
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688853
    reference: chr 6
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-4A>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-4A>G
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
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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
  all individuals: 1766
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hgvs: c.112-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.505072092953252e-5
  allele num: 66442
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

6-17688855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688855
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688855
    reference: chr 6
allele count: 5
allele frequency: 4.148069488460071e-5
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-6C>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-6C>G
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: c.112-6C>G
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10234
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

6-17688859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688859
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688859
    reference: chr 6
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-10C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-10C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 8609
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 32383
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

6-17688859-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688859
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688858
    reference: chr 6
allele count: 3
allele frequency: 2.494470590191741e-5
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-11delT
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-11delT
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
  all individuals: 32383
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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: 22
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 142
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genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5980
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  variant carriers: 2
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.865671641791045e-4
  allele num: 16080
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: GA
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-17688867-ATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688867
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688864
    reference: chr 6
allele count: 2
allele frequency: 1.674985762621018e-5
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-21_112-19delATA
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-21_112-19delATA
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
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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: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 327
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 395
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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
  all individuals: 5977
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 30823
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6600
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: ATAT
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-17688882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688882
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688882
    reference: chr 6
allele count: 1
allele frequency: 8.487955591016347e-6
allele num: 117814
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-33A>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-33A>G
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2347
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6580
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

6-17688891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688891
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688891
    reference: chr 6
allele count: 3
allele frequency: 2.583000413280066e-5
allele num: 116144
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-42T>C
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-42T>C
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19660
  bin: 6.25e1
  variant carriers: 0
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: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9588
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

6-17688892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688892
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688892
    reference: chr 6
allele count: 1
allele frequency: 8.608963652955456e-6
allele num: 116158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-43A>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-43A>G
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  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
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.75e1
  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
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9590
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-17688893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688893
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688893
    reference: chr 6
allele count: 1
allele frequency: 8.641548565502938e-6
allele num: 115720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-44G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-44G>A
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 8.25e1
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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: 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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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6570
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

6-17688898-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688898
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688898
    reference: chr 6
allele count: 1
allele frequency: 8.818186628101796e-6
allele num: 113402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-49A>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-49A>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.204819277108434e-4
  allele num: 8300
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/6-17688899-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17688899
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17688899
    reference: chr 6
allele count: 7
allele frequency: 6.162080318315464e-5
allele num: 113598
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.112-50T>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.112-50T>G
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5972
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12337
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8306
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-17706462-CGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706462
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706460
    reference: chr 6
allele count: 4
allele frequency: 3.571428571428572e-5
allele num: 112000
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+44_111+45delTC
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+44_111+45delTC
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 595
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genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 585
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genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 23540
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 383
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16102
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: CGA
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-17706470-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706470
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706470
    reference: chr 6
allele count: 1
allele frequency: 8.89157612078317e-6
allele num: 112466
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+38G>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+38G>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30340
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 541
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genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
  all individuals: 1256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 758
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 963
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genotype quality: GenotypeQuality
  all individuals: 315
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3533
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 800
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

6-17706471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706471
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706471
    reference: chr 6
allele count: 2
allele frequency: 1.775820429038216e-5
allele num: 112624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+37G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+37G>A
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 435
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genotype depth: GenotypeDepth
  all individuals: 67
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 2175
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genotype quality: GenotypeQuality
  all individuals: 31061
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 262
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genotype quality: GenotypeQuality
  all individuals: 316
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genotype quality: GenotypeQuality
  all individuals: 1222
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genotype quality: GenotypeQuality
  all individuals: 1406
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genotype quality: GenotypeQuality
  all individuals: 466
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1264
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10904
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

6-17706474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706474
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706474
    reference: chr 6
allele count: 1
allele frequency: 8.841420285754704e-6
allele num: 113104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+34G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+34G>A
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
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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: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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
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genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
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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: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.612071189063709e-5
  allele num: 62032
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

6-17706478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706478
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706478
    reference: chr 6
allele count: 24
allele frequency: 2.111300737195841e-4
allele num: 113674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+30G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+30G>A
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 9.094216078574027e-5
  allele num: 10996
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-17706479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706479
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706479
    reference: chr 6
allele count: 1
allele frequency: 8.786728525235485e-6
allele num: 113808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+29G>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+29G>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 130
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genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 3783
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10998
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-17706479-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706479
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706479
    reference: chr 6
allele count: 1
allele frequency: 8.786728525235485e-6
allele num: 113808
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+29G>C
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+29G>C
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10998
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

6-17706480-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706480
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706479
    reference: chr 6
allele count: 88
allele frequency: 7.718214987370194e-4
allele num: 114016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+27delC
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+27delC
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 8
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: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37393
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 818
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: AG
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-17706482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706482
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706482
    reference: chr 6
allele count: 1
allele frequency: 8.774238834781082e-6
allele num: 113970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+26C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+26C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5742
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

6-17706484-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706484
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706484
    reference: chr 6
allele count: 125
allele frequency: 1.090864662966454e-3
allele num: 114588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+24G>C
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+24G>C
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27905
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16441
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 82
  allele frequency: 1.303739506486899e-3
  allele num: 62896
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-17706487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706487
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706487
    reference: chr 6
allele count: 1
allele frequency: 8.685682520932494e-6
allele num: 115132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+21G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+21G>A
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28668
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 374
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
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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
  all individuals: 40018
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genotype quality: GenotypeQuality
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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: 40
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
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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: 145
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11116
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-17706490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706490
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706490
    reference: chr 6
allele count: 26
allele frequency: 2.242964854466088e-4
allele num: 115918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.3G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+18C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+18C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29528
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

6-17706491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706491
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706491
    reference: chr 6
allele count: 1
allele frequency: 8.61163259330704e-6
allele num: 116122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+17C>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+17C>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.4G>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

6-17706493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706493
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706493
    reference: chr 6
allele count: 13517
allele frequency: 1.155674492570237e-1
allele num: 116962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+15C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.6G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+15C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 394
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 1575
genotype depth: GenotypeDepth
  all individuals: 16414
  bin: 2.75e1
  variant carriers: 1181
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 24891
  bin: 2.25e1
  variant carriers: 706
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 801
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 1714
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 3.25e1
  variant carriers: 1514
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 1335
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 1038
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 314
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 37363
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 12363
  bin: 9.75e1
  variant carriers: 12329
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 6.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 11
num of homozygotes: 861
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-17706497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706497
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706497
    reference: chr 6
allele count: 1
allele frequency: 8.486658972095866e-6
allele num: 117832
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+11C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.10G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+11C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

6-17706499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706499
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706499
    reference: chr 6
allele count: 1
allele frequency: 8.461095881138525e-6
allele num: 118188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.12G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+9C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+9C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
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: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-17706503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706503
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706503
    reference: chr 6
allele count: 4
allele frequency: 3.371828373935766e-5
allele num: 118630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+5G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+5G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.16C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
hgvs: c.111+5G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-17706505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706505
    reference: chr 6
allele count: 2
allele frequency: 1.68321831341525e-5
allele num: 118820
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.111+3A>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.111+3A>G
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.18T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
hgvs: c.111+3A>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

6-17706512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706512
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706512
    reference: chr 6
allele count: 2
allele frequency: 1.677317633640282e-5
allele num: 119238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.107A>G
  hgvsp: ENSP00000262077.2:p.His36Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.107A>G
  hgvsp: ENSP00000444029.1:p.His36Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.25T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6798
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His36Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

6-17706518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706518
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706518
    reference: chr 6
allele count: 2
allele frequency: 1.674761346508122e-5
allele num: 119420
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.101A>G
  hgvsp: ENSP00000262077.2:p.Gln34Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.101A>G
  hgvsp: ENSP00000444029.1:p.Gln34Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.31T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln34Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

6-17706519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706519
    reference: chr 6
allele count: 1
allele frequency: 8.371142995864656e-6
allele num: 119458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.100C>A
  hgvsp: ENSP00000444029.1:p.Gln34Lys
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.32G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.100C>A
  hgvsp: ENSP00000262077.2:p.Gln34Lys
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln34Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-17706522-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706522
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706522
    reference: chr 6
allele count: 3
allele frequency: 2.51004016064257e-5
allele num: 119520
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.35G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.97C>A
  hgvsp: ENST00000537253.1:c.97C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.97C>A
  hgvsp: ENST00000262077.2:c.97C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg33Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

6-17706523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706523
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706523
    reference: chr 6
allele count: 6
allele frequency: 5.019324398935903e-5
allele num: 119538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.96G>A
  hgvsp: ENST00000537253.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.96G>A
  hgvsp: ENST00000262077.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.36C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly32Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-17706524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706524
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706524
    reference: chr 6
allele count: 631
allele frequency: 5.276713886705357e-3
allele num: 119582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.95G>A
  hgvsp: ENSP00000444029.1:p.Gly32Glu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.95G>A
  hgvsp: ENSP00000262077.2:p.Gly32Glu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.37C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 27726
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 22944
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.75e1
  variant carriers: 627
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6791
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Gly32Glu
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-17706536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706536
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706536
    reference: chr 6
allele count: 2
allele frequency: 1.671318503167149e-5
allele num: 119666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.83C>T
  hgvsp: ENSP00000262077.2:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.83C>T
  hgvsp: ENSP00000444029.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.49G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro28Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

6-17706545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706545
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706545
    reference: chr 6
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.74C>T
  hgvsp: ENSP00000444029.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.58G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.74C>T
  hgvsp: ENSP00000262077.2:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro25Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/6-17706547-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706547
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706547
    reference: chr 6
allele count: 13
allele frequency: 1.087356552577872e-4
allele num: 119556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.60C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.72G>T
  hgvsp: ENST00000262077.2:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.72G>T
  hgvsp: ENST00000537253.1:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly24Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

6-17706548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706548
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706548
    reference: chr 6
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.61C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.71G>A
  hgvsp: ENSP00000262077.2:p.Gly24Glu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.71G>A
  hgvsp: ENSP00000444029.1:p.Gly24Glu
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly24Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

6-17706551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706551
    reference: chr 6
allele count: 5
allele frequency: 4.184170446367303e-5
allele num: 119498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.64T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.68A>G
  hgvsp: ENSP00000262077.2:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.68A>G
  hgvsp: ENSP00000444029.1:p.Gln23Arg
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln23Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

6-17706554-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706554
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706554
    reference: chr 6
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.65A>T
  hgvsp: ENSP00000262077.2:p.His22Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.67T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.65A>T
  hgvsp: ENSP00000444029.1:p.His22Leu
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His22Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-17706560-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706560
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706560
    reference: chr 6
allele count: 1
allele frequency: 8.387713677005921e-6
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.73C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.59G>T
  hgvsp: ENSP00000444029.1:p.Arg20Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.59G>T
  hgvsp: ENSP00000262077.2:p.Arg20Leu
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg20Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-17706560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706560
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706560
    reference: chr 6
allele count: 1
allele frequency: 8.387713677005921e-6
allele num: 119222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.59G>A
  hgvsp: ENSP00000444029.1:p.Arg20His
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.59G>A
  hgvsp: ENSP00000262077.2:p.Arg20His
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.73C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg20His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/6-17706562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706562
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706562
    reference: chr 6
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.57G>T
  hgvsp: ENST00000537253.1:c.57G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.57G>T
  hgvsp: ENST00000262077.2:c.57G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.75C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg19Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-17706565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706565
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706565
    reference: chr 6
allele count: 2
allele frequency: 1.67897918065816e-5
allele num: 119120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.54G>T
  hgvsp: ENST00000537253.1:c.54G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.54G>T
  hgvsp: ENST00000262077.2:c.54G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.78C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr18Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-17706569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706569
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706569
    reference: chr 6
allele count: 5
allele frequency: 4.207125187217071e-5
allele num: 118846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.50G>A
  hgvsp: ENSP00000262077.2:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.82C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.50G>A
  hgvsp: ENSP00000444029.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg17Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

6-17706577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706577
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706577
    reference: chr 6
allele count: 8
allele frequency: 6.760296777028511e-5
allele num: 118338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.42C>T
  hgvsp: ENST00000262077.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.42C>T
  hgvsp: ENST00000537253.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.90G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 350
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-17706580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706580
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706580
    reference: chr 6
allele count: 1
allele frequency: 8.459521191100584e-6
allele num: 118210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.39C>T
  hgvsp: ENST00000262077.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.93G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.39C>T
  hgvsp: ENST00000537253.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 2.25e1
  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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly13Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-17706585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706585
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706585
    reference: chr 6
allele count: 1
allele frequency: 8.486658972095866e-6
allele num: 117832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.34G>A
  hgvsp: ENSP00000444029.1:p.Gly12Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.34G>A
  hgvsp: ENSP00000262077.2:p.Gly12Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.98C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly12Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-17706588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706588
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706588
    reference: chr 6
allele count: 1
allele frequency: 8.492280517010038e-6
allele num: 117754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.31G>A
  hgvsp: ENSP00000444029.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.31G>A
  hgvsp: ENSP00000262077.2:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.101C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly11Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

6-17706594-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706594
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706594
    reference: chr 6
allele count: 3
allele frequency: 2.571443265390088e-5
allele num: 116666
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.107C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.25G>C
  hgvsp: ENSP00000262077.2:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.25G>C
  hgvsp: ENSP00000444029.1:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly9Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

6-17706596-ACTCCTCCGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706596
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706587
    reference: chr 6
allele count: 3
allele frequency: 2.577231022988901e-5
allele num: 116404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.14_22delCCGGAGGAG
  hgvsp: ENSP00000444029.1:p.Ala5_Gly7del
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.14_22delCCGGAGGAG
  hgvsp: ENSP00000262077.2:p.Ala5_Gly7del
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.114_122delTCCGGCTCC
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala5_Gly7del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: ACTCCTCCGG
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

6-17706604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706604
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706604
    reference: chr 6
allele count: 1
allele frequency: 8.722958827634334e-6
allele num: 114640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.15C>T
  hgvsp: ENST00000262077.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.15C>T
  hgvsp: ENST00000537253.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.117G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala5Ala
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: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-17706606-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706606
    reference: chr 6
allele count: 2
allele frequency: 1.747457449411107e-5
allele num: 114452
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.13G>T
  hgvsp: ENSP00000262077.2:p.Ala5Ser
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.119C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.13G>T
  hgvsp: ENSP00000444029.1:p.Ala5Ser
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala5Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

6-17706608-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706608
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706608
    reference: chr 6
allele count: 2
allele frequency: 1.750455118330766e-5
allele num: 114256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.11G>C
  hgvsp: ENSP00000262077.2:p.Gly4Ala
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.11G>C
  hgvsp: ENSP00000444029.1:p.Gly4Ala
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.121C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 259
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 896
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genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly4Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

6-17706610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706610
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706610
    reference: chr 6
allele count: 28
allele frequency: 2.470094216450827e-4
allele num: 113356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.9G>C
  hgvsp: ENST00000262077.2:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.9G>C
  hgvsp: ENST00000537253.1:c.9G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.123C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser3Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

6-17706611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706611
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706611
    reference: chr 6
allele count: 2
allele frequency: 1.770099479590753e-5
allele num: 112988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.8C>T
  hgvsp: ENSP00000444029.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.124G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000262077
  ensembl transcript: ENST00000262077
  gene symbol: NUP153
  hgvsc: ENST00000262077.2:c.8C>T
  hgvsp: ENSP00000262077.2:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/8062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser3Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

6-17706619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706619
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706619
    reference: chr 6
allele count: 1
allele frequency: 9.164894787007845e-6
allele num: 109112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.132G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 770
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS

6-17706622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706622
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706622
    reference: chr 6
allele count: 10
allele frequency: 9.393022862617648e-5
allele num: 106462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.135G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18562
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19425
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35372
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 492
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genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7598
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-17706622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706622
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706622
    reference: chr 6
allele count: 1
allele frequency: 9.393022862617647e-6
allele num: 106462
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.135G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-4C>G
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10544
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 369
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7598
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-17706630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706630
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706630
    reference: chr 6
allele count: 1
allele frequency: 9.900205924283225e-6
allele num: 101008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-12G>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.143C>A
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
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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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 29450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 6.75e1
  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
  all individuals: 1531
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 436
  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: 630
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5252
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-17706631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706631
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706631
    reference: chr 6
allele count: 1
allele frequency: 9.903147220186576e-6
allele num: 100978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.144G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 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
  all individuals: 17
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  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9834
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-17706634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706634
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706634
    reference: chr 6
allele count: 1
allele frequency: 9.99000999000999e-6
allele num: 100100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.147G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 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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  bin: 1.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 690
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

6-17706635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706635
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706635
    reference: chr 6
allele count: 2
allele frequency: 2.03471218996073e-5
allele num: 98294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.148C>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3912
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 805
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9540
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

6-17706638-CCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706635
    reference: chr 6
allele count: 3
allele frequency: 3.098405354044452e-5
allele num: 96824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.153_155delCGC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-23_-21delCGG
  variant of: http://identifiers.org/hgnc/8062
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11188
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 2.137665669089354e-4
  allele num: 9356
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CCCG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

6-17706641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17706641
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 17706641
    reference: chr 6
allele count: 2
allele frequency: 2.16277007591323e-5
allele num: 92474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124789
  ensembl protein: ENSP00000444029
  ensembl transcript: ENST00000537253
  gene symbol: NUP153
  hgvsc: ENST00000537253.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/8062
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272269
  ensembl transcript: ENST00000606771
  gene symbol: RP11-500C11.3
  hgvsc: ENST00000606771.1:n.154G>A
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 2.478e0

DP
type: SiteQuality
SIO_000300: 1.939093e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.191e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 1.212e0

DP
type: SiteQuality
SIO_000300: 1.938759e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

FS
type: SiteQuality
SIO_000300: 2.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.938684e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

DP
type: SiteQuality
SIO_000300: 1.938454e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 1.938454e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.938032e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -1.768e0

MQRankSum
type: SiteQuality
SIO_000300: -1.515e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.0994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 1.067e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.937714e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.266e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

FS
type: SiteQuality
SIO_000300: 1.662e0

VQSLOD
type: SiteQuality
SIO_000300: -2.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 1.936305e6

QD
type: SiteQuality
SIO_000300: 1.179e1

MQ
type: SiteQuality
SIO_000300: 5.804e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.315e0

QD
type: SiteQuality
SIO_000300: 1.062e1

FS
type: SiteQuality
SIO_000300: 9.75e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.934218e6

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 9.401999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.933911e6

QD
type: SiteQuality
SIO_000300: 1.329e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.585e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

QD
type: SiteQuality
SIO_000300: 1.606e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

FS
type: SiteQuality
SIO_000300: 3.848e0

DP
type: SiteQuality
SIO_000300: 1.933633e6

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
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: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.91793e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.581e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

South Asian
type: Population
allele count: 5
allele frequency: 3.0833744449926e-4
allele num: 16216
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.91437e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

FS
type: SiteQuality
SIO_000300: 5.327e0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.442e1

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
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: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.089e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.906087e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.906087e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.469e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 2.003e1

DP
type: SiteQuality
SIO_000300: 1.87545e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.784421e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 3.647e0

QD
type: SiteQuality
SIO_000300: 1.237e1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.632060031498008e-5
allele num: 64766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.69675e6

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.967000000000001e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.890848952590959e-5
allele num: 14512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.696392e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 3.039e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.972528238739367e-5
allele num: 14342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.929e0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.688887e6

MQ
type: SiteQuality
SIO_000300: 5.851e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

DP
type: SiteQuality
SIO_000300: 1.657049e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.466279589102278e-4
allele num: 13434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.656287e6

QD
type: SiteQuality
SIO_000300: 1.62e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 3.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.158428663932657e-4
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.253090435914119e-5
allele num: 61480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.275427e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

African
type: Population
allele count: 1
allele frequency: 1.074344649763644e-4
allele num: 9308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 1.319128e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.237188825224175e-5
allele num: 61782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.324951e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.344249e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.53e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.435924592247405e-3
allele num: 9442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.526e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.37613e6

QD
type: SiteQuality
SIO_000300: 1.27e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05797714769361e-4
allele num: 9452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 7.24e0

DP
type: SiteQuality
SIO_000300: 1.383432e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601127193544255e-5
allele num: 62456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

QD
type: SiteQuality
SIO_000300: 7.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.383432e6

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
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African
type: Population
allele count: 87
allele frequency: 9.165613147914033e-3
allele num: 9492
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Latino
type: Population
allele count: 1
allele frequency: 9.079353550027238e-5
allele num: 11014
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62566
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.027e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.393401e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596016343207354e-5
allele num: 62656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
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MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.091e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.402579e6

African
type: Population
allele count: 1
allele frequency: 1.04777870913663e-4
allele num: 9544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
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South Asian
type: Population
allele count: 1
allele frequency: 6.155361319709468e-5
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
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Latino
type: Population
allele count: 41
allele frequency: 3.706382209365395e-3
allele num: 11062
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 1.415859e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63210
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African
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allele count: 0
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allele num: 9592
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East Asian
type: Population
allele count: 1
allele frequency: 1.210067763794773e-4
allele num: 8264
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
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DP
type: SiteQuality
SIO_000300: 1.43286e6

QD
type: SiteQuality
SIO_000300: 3.297e1

MQ
type: SiteQuality
SIO_000300: 5.885e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.481e0

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.299500361373849e-4
allele num: 63646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
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South Asian
type: Population
allele count: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.106876553438277e-4
allele num: 9656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
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Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 1.455278e6

FS
type: SiteQuality
SIO_000300: 5.241e0

QD
type: SiteQuality
SIO_000300: 1.553e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567791295622727e-5
allele num: 63784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.502e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 2.306e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.45904e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

African
type: Population
allele count: 981
allele frequency: 1.002862400327132e-1
allele num: 9782
num of homozygotes: 56

Other
type: Population
allele count: 79
allele frequency: 9.33806146572104e-2
allele num: 846
num of homozygotes: 8

Latino
type: Population
allele count: 2107
allele frequency: 1.875556346804344e-1
allele num: 11234
num of homozygotes: 199

European (Non-Finnish)
type: Population
allele count: 7695
allele frequency: 1.197069163996142e-1
allele num: 64282
num of homozygotes: 480

South Asian
type: Population
allele count: 1645
allele frequency: 1.004886988393403e-1
allele num: 16370
num of homozygotes: 80

European (Finnish)
type: Population
allele count: 473
allele frequency: 7.78216518591642e-2
allele num: 6078
num of homozygotes: 16

East Asian
type: Population
allele count: 537
allele frequency: 6.415770609318996e-2
allele num: 8370
num of homozygotes: 22

FS
type: SiteQuality
SIO_000300: 1.433e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.703459e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.569e1

African
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allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64734
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
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.500738e6

QD
type: SiteQuality
SIO_000300: 2.027e1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11360
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.818e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.535e0

DP
type: SiteQuality
SIO_000300: 1.50541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
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African
type: Population
allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65184
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East Asian
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allele count: 0
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South Asian
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allele count: 4
allele frequency: 2.430724355858046e-4
allele num: 16456
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

FS
type: SiteQuality
SIO_000300: 1.256e0

DP
type: SiteQuality
SIO_000300: 1.514006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.976057462090982e-5
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65294
num of homozygotes: 0

Latino
type: Population
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: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8490
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MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 4.434e0

DP
type: SiteQuality
SIO_000300: 1.515916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.431e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 7.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.984126984126984e-4
allele num: 10080
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11404
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.087e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.92e-1

DP
type: SiteQuality
SIO_000300: 1.522525e6

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11422
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African
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allele count: 0
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South Asian
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allele frequency: 0.0e0
allele num: 16480
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.347417840375587e-4
allele num: 8520
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
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Other
type: Population
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allele num: 876
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VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
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South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
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African
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.426e0

FS
type: SiteQuality
SIO_000300: 2.202e0

VQSLOD
type: SiteQuality
SIO_000300: -1.395e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.526229e6

QD
type: SiteQuality
SIO_000300: 1.697e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

GenotypeQuality
all individuals: 1113
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.623753716984433e-4
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 1.527523e6

FS
type: SiteQuality
SIO_000300: 1.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.157e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.140489320861644e-5
allele num: 65642
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 2.518e1

DP
type: SiteQuality
SIO_000300: 1.528049e6

VQSLOD
type: SiteQuality
SIO_000300: -2.31e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 4.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 68
allele frequency: 1.053936763794172e-2
allele num: 6452
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.272727272727273e-3
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 505
allele frequency: 7.690667641325536e-3
allele num: 65664
num of homozygotes: 2

Latino
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allele count: 19
allele frequency: 1.660548855095263e-3
allele num: 11442
num of homozygotes: 0

African
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allele count: 9
allele frequency: 8.875739644970414e-4
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.699029126213592e-3
allele num: 16480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

FS
type: SiteQuality
SIO_000300: 1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.543535e6

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10148
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.044696139325295e-5
allele num: 65688
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.892e0

QD
type: SiteQuality
SIO_000300: 1.299e1

FS
type: SiteQuality
SIO_000300: 2.824e0

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

DP
type: SiteQuality
SIO_000300: 1.521044e6

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.182e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 4.729e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.518915e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.980801462745696e-4
allele num: 65630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

DP
type: SiteQuality
SIO_000300: 1.519419e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 9.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

GenotypeQuality
all individuals: 1058
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.243e0

DP
type: SiteQuality
SIO_000300: 1.518989e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.622880839126723e-5
allele num: 65592
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 1.518031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.526065193505067e-5
allele num: 65528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10100
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East Asian
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allele count: 0
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allele num: 8514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 1.671e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.515867e6

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11418
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 frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65438
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
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South Asian
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allele count: 0
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allele num: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6420
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 frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65438
num of homozygotes: 0

South Asian
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.510961e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65412
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.987281399046105e-4
allele num: 10064
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South Asian
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65386
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

QD
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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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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Other
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Other
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European (Finnish)
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East Asian
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FS
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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Other
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BaseQRankSum
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ClippingRankSum
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DP
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MQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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African
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MQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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Latino
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QD
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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QD
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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FS
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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East Asian
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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South Asian
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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DP
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FS
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Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724197386116763e-5
allele num: 57998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.299625e6

QD
type: SiteQuality
SIO_000300: 1.395e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.821228236322576e-5
allele num: 54908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 7.917e0

QD
type: SiteQuality
SIO_000300: 1.077e1

DP
type: SiteQuality
SIO_000300: 1.213023e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.554798112218144e-5
allele num: 15256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.53e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.175e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.211976e6

QD
type: SiteQuality
SIO_000300: 1.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837897445322551e-5
allele num: 54410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 1.201783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: -2.614e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 1
allele frequency: 1.335826876836762e-4
allele num: 7486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.871467604895759e-5
allele num: 53434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

DP
type: SiteQuality
SIO_000300: 1.171287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

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: 14968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.900273639404074e-5
allele num: 52624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 1.144923e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.616e1