8-43047613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43047613
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43047613
    reference: chr 8
allele count: 1
allele frequency: 8.972955512086571e-6
allele num: 111446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.573+40C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.528+40C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1377+40C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.481+40C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.310+40C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1461+40C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19888
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

8-43047614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43047614
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43047614
    reference: chr 8
allele count: 6
allele frequency: 5.375669718852474e-5
allele num: 111614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1377+41T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.528+41T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1461+41T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.310+41T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.573+41T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.481+41T>C
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4803
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

8-43047620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43047620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43047620
    reference: chr 8
allele count: 10
allele frequency: 9.098518761145686e-5
allele num: 109908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.481+47A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.573+47A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1461+47A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.528+47A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.310+47A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1377+47A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7637
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  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: 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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

8-43048850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048850
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048850
    reference: chr 8
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-50G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-50G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-50G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-50G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-50G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-50G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-43048856-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048856
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048856
    reference: chr 8
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-44T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-44T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-44T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-44T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-44T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-44T>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7455
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-43048862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048862
    reference: chr 8
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-38C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-38C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-38C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-38C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-38C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-38C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

8-43048875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048875
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048875
    reference: chr 8
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-25C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-25C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-25C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-25C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-25C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-25C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-43048879-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048879
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048879
    reference: chr 8
allele count: 2
allele frequency: 1.658787426391308e-5
allele num: 120570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-21C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-21C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-21C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-21C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-21C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-21C>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7440
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-43048880-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048880
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048880
    reference: chr 8
allele count: 12
allele frequency: 9.951403977244456e-5
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-20T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-20T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-20T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-20T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-20T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-20T>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

8-43048884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048884
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048884
    reference: chr 8
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.482-16G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1378-16G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1462-16G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.311-16G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.529-16G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.574-16G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-43048902-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048902
    reference: chr 8
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.313A>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1464A>T
  hgvsp: ENST00000458501.2:c.1464A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.576A>T
  hgvsp: ENST00000297798.7:c.576A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.484A>T
  hgvsp: ENST00000524016.1:c.484A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1380A>T
  hgvsp: ENST00000379644.4:c.1380A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.531A>T
  hgvsp: ENST00000521576.1:c.531A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1380A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

8-43048909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048909
    reference: chr 8
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.320C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.491C>T
  hgvsp: ENSP00000428322.1:p.His165Tyr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.583C>T
  hgvsp: ENSP00000297798.7:p.His195Tyr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1387C>T
  hgvsp: ENSP00000368965.4:p.His463Tyr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1471C>T
  hgvsp: ENSP00000389524.2:p.His491Tyr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.538C>T
  hgvsp: ENSP00000429029.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His463Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-43048914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048914
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048914
    reference: chr 8
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.325C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.543C>T
  hgvsp: ENST00000521576.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.588C>T
  hgvsp: ENST00000297798.7:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1392C>T
  hgvsp: ENST00000379644.4:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1476C>T
  hgvsp: ENST00000458501.2:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.496C>T
  hgvsp: ENST00000524016.1:c.496C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr464Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-43048915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048915
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048915
    reference: chr 8
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.497G>A
  hgvsp: ENSP00000428322.1:p.Glu167Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.589G>A
  hgvsp: ENSP00000297798.7:p.Glu197Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1477G>A
  hgvsp: ENSP00000389524.2:p.Glu493Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.544G>A
  hgvsp: ENSP00000429029.1:p.Glu182Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1393G>A
  hgvsp: ENSP00000368965.4:p.Glu465Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.326G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu465Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

8-43048925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048925
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048925
    reference: chr 8
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.599A>G
  hgvsp: ENSP00000297798.7:p.Tyr200Cys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1487A>G
  hgvsp: ENSP00000389524.2:p.Tyr496Cys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.336A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1403A>G
  hgvsp: ENSP00000368965.4:p.Tyr468Cys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.554A>G
  hgvsp: ENSP00000429029.1:p.Tyr185Cys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.507A>G
  hgvsp: ENSP00000428322.1:p.Tyr170Cys
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr468Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-43048932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048932
    reference: chr 8
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.343C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1494C>T
  hgvsp: ENST00000458501.2:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.606C>T
  hgvsp: ENST00000297798.7:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.514C>T
  hgvsp: ENST00000524016.1:c.514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.561C>T
  hgvsp: ENST00000521576.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1410C>T
  hgvsp: ENST00000379644.4:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro470Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

8-43048933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048933
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048933
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1411G>A
  hgvsp: ENSP00000368965.4:p.Glu471Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.562G>A
  hgvsp: ENSP00000429029.1:p.Glu188Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.607G>A
  hgvsp: ENSP00000297798.7:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1495G>A
  hgvsp: ENSP00000389524.2:p.Glu499Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.515G>A
  hgvsp: ENSP00000428322.1:p.Glu173Lys
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.344G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu471Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

8-43048953-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048953
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048953
    reference: chr 8
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.582C>G
  hgvsp: ENSP00000429029.1:p.Ile194Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.627C>G
  hgvsp: ENSP00000297798.7:p.Ile209Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1431C>G
  hgvsp: ENSP00000368965.4:p.Ile477Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.535C>G
  hgvsp: ENSP00000428322.1:p.Ile179Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1515C>G
  hgvsp: ENSP00000389524.2:p.Ile505Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.364C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile477Met
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/8-43048955-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048955
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048955
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.629A>C
  hgvsp: ENSP00000297798.7:p.Asn210Thr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.366A>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1433A>C
  hgvsp: ENSP00000368965.4:p.Asn478Thr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1517A>C
  hgvsp: ENSP00000389524.2:p.Asn506Thr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.537A>C
  hgvsp: ENSP00000428322.1:p.Asn180Thr
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.584A>C
  hgvsp: ENSP00000429029.1:p.Asn195Thr
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn478Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-43048955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048955
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048955
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1517A>G
  hgvsp: ENSP00000389524.2:p.Asn506Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.366A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.537A>G
  hgvsp: ENSP00000428322.1:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1433A>G
  hgvsp: ENSP00000368965.4:p.Asn478Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.629A>G
  hgvsp: ENSP00000297798.7:p.Asn210Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.584A>G
  hgvsp: ENSP00000429029.1:p.Asn195Ser
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn478Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

8-43048957-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048957
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048958
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1521dupC
  hgvsp: ENSP00000389524.2:p.Ile508HisfsTer47
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.541dupC
  hgvsp: ENSP00000428322.1:p.Ile182HisfsTer?
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.633dupC
  hgvsp: ENSP00000297798.7:p.Ile212HisfsTer47
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.370dupC
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.588dupC
  hgvsp: ENSP00000429029.1:p.Ile197HisfsTer47
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1437dupC
  hgvsp: ENSP00000368965.4:p.Ile480HisfsTer47
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile480HisfsTer47
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-43048960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048960
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048960
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1522A>G
  hgvsp: ENSP00000389524.2:p.Ile508Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.542A>G
  hgvsp: ENSP00000428322.1:p.Ile182Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.371A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.634A>G
  hgvsp: ENSP00000297798.7:p.Ile212Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1438A>G
  hgvsp: ENSP00000368965.4:p.Ile480Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.589A>G
  hgvsp: ENSP00000429029.1:p.Ile197Val
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile480Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-43048962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048962
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048962
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1440C>T
  hgvsp: ENST00000379644.4:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1524C>T
  hgvsp: ENST00000458501.2:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.591C>T
  hgvsp: ENST00000521576.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.373C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.636C>T
  hgvsp: ENST00000297798.7:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.544C>T
  hgvsp: ENST00000524016.1:c.544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile480Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

8-43048963-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048963
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048963
    reference: chr 8
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.545G>T
  hgvsp: ENSP00000428322.1:p.Val183Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.592G>T
  hgvsp: ENSP00000429029.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1525G>T
  hgvsp: ENSP00000389524.2:p.Val509Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.637G>T
  hgvsp: ENSP00000297798.7:p.Val213Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1441G>T
  hgvsp: ENSP00000368965.4:p.Val481Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.374G>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val481Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-43048964-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048964
    reference: chr 8
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.638T>A
  hgvsp: ENSP00000297798.7:p.Val213Glu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.593T>A
  hgvsp: ENSP00000429029.1:p.Val198Glu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1442T>A
  hgvsp: ENSP00000368965.4:p.Val481Glu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.546T>A
  hgvsp: ENSP00000428322.1:p.Val183Glu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.375T>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1526T>A
  hgvsp: ENSP00000389524.2:p.Val509Glu
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val481Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-43048969-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048969
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048968
    reference: chr 8
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1533delC
  hgvsp: ENSP00000389524.2:p.Leu513Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.382delC
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.600delC
  hgvsp: ENSP00000429029.1:p.Leu202Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.553delC
  hgvsp: ENSP00000428322.1:p.Leu187Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.645delC
  hgvsp: ENSP00000297798.7:p.Leu217Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1449delC
  hgvsp: ENSP00000368965.4:p.Leu485Ter
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu485Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GC
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

8-43048978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048978
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048978
    reference: chr 8
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.607G>A
  hgvsp: ENSP00000429029.1:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1456G>A
  hgvsp: ENSP00000368965.4:p.Gly486Arg
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1540G>A
  hgvsp: ENSP00000389524.2:p.Gly514Arg
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.652G>A
  hgvsp: ENSP00000297798.7:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.560G>A
  hgvsp: ENSP00000428322.1:p.Gly188Arg
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.389G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly486Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-43048980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048980
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048980
    reference: chr 8
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.391A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1542A>G
  hgvsp: ENST00000458501.2:c.1542A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.562A>G
  hgvsp: ENST00000524016.1:c.562A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.609A>G
  hgvsp: ENST00000521576.1:c.609A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1458A>G
  hgvsp: ENST00000379644.4:c.1458A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.654A>G
  hgvsp: ENST00000297798.7:c.654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly486Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-43048987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43048987
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43048987
    reference: chr 8
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+1G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+1G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.398G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+1G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+1G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+1G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10463
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1464+1G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-43049012-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049012
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049012
    reference: chr 8
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+26T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+26T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+26T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+26T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.423T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+26T>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-43049020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049020
    reference: chr 8
allele count: 1
allele frequency: 8.370442294170824e-6
allele num: 119468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.431A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+34A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+34A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+34A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+34A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+34A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

8-43049021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049021
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049021
    reference: chr 8
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+35C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.432C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+35C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+35C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+35C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+35C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17898
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-43049027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049027
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049027
    reference: chr 8
allele count: 35
allele frequency: 2.94771594124781e-4
allele num: 118736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+41A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+41A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+41A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+41A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.438A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+41A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-43049030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049030
    reference: chr 8
allele count: 2
allele frequency: 1.68662506324844e-5
allele num: 118580
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+44A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+44A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.441A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+44A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+44A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+44A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-43049033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43049033
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43049033
    reference: chr 8
allele count: 2
allele frequency: 1.694628029147602e-5
allele num: 118020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000520678
  gene symbol: HGSNAT
  hgvsc: ENST00000520678.1:n.444T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.568+47T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.615+47T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1548+47T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.660+47T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1464+47T>C
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-43051526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051526
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051526
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 10718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-565C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.567C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-565C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-565C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.569-47C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-565C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.216C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-43051538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051538
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051538
    reference: chr 8
allele count: 1
allele frequency: 9.267840593141798e-5
allele num: 10790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.228C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.569-35C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-553C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-553C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-553C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.579C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-553C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5895
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-43051543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051543
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051543
    reference: chr 8
allele count: 18
allele frequency: 1.670068658378178e-3
allele num: 10778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-548G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-548G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-548G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.584G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.233G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-548G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.569-30G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-43051557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051557
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051557
    reference: chr 8
allele count: 5
allele frequency: 4.627915586819697e-4
allele num: 10804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-534C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.598C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.247C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-534C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-534C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.569-16C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-534C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-43051585-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051585
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051585
    reference: chr 8
allele count: 1
allele frequency: 9.257544899092761e-5
allele num: 10802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-506T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.581T>G
  hgvsp: ENSP00000428322.1:p.Trp195Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.275T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.626T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-506T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-506T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-506T>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.5e0
  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 depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp195Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-43051601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051601
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051601
    reference: chr 8
allele count: 1
allele frequency: 9.260974254491573e-5
allele num: 10798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.291C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-490C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-490C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.642C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.597C>G
  hgvsp: ENSP00000428322.1:p.Ala200Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-490C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-490C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala200Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-43051611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051611
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051611
    reference: chr 8
allele count: 5
allele frequency: 4.62962962962963e-4
allele num: 10800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.607G>A
  hgvsp: ENST00000524016.1:c.607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-480G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-480G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-480G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.301G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-480G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.652G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr203Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-43051618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051618
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051618
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 10794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.308T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-473T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.614T>C
  hgvsp: ENST00000524016.1:c.614T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-473T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-473T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-473T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.659T>C
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu206Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

8-43051650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051650
    reference: chr 8
allele count: 1
allele frequency: 9.257544899092761e-5
allele num: 10802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-441C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.691C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-441C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.646C>G
  hgvsp: ENST00000524016.1:c.646C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-441C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-441C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.340C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro216Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-43051670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051670
    reference: chr 8
allele count: 6
allele frequency: 5.546311702717693e-4
allele num: 10818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.711C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.666C>T
  hgvsp: ENSP00000428322.1:p.Thr223Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-421C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-421C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-421C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-421C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.360C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr223Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-43051671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051671
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051671
    reference: chr 8
allele count: 1
allele frequency: 9.247272054743851e-5
allele num: 10814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-420G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.667G>A
  hgvsp: ENST00000524016.1:c.667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-420G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.712G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-420G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-420G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.361G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  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: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7062
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr223Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

8-43051674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051674
    reference: chr 8
allele count: 1
allele frequency: 9.243852837862822e-5
allele num: 10818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-417G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.715G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-417G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.670G>T
  hgvsp: ENSP00000428322.1:p.Glu224Asp
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.364G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-417G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-417G>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6977
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu224Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-43051689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051689
    reference: chr 8
allele count: 4
allele frequency: 3.701647233018693e-4
allele num: 10806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.679+6C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-402C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-402C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-402C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.379C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.730C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-402C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  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: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6977
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
hgvs: c.679+6C>T
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-43051692-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051692
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051689
    reference: chr 8
allele count: 1
allele frequency: 9.255831173639393e-5
allele num: 10804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-393_616-391delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.679+15_679+17delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-393_661-391delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.739_741delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-393_1465-391delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.388_390delCCT
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-393_1549-391delCCT
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TCTC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/8-43051711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051711
    reference: chr 8
allele count: 92
allele frequency: 8.507490290364343e-3
allele num: 10814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.401C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-380C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.752C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.679+28C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-380C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-380C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-380C>A
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7054
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.75e1
  variant carriers: 89
num of homozygotes: 3
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

8-43051717-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43051717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43051717
    reference: chr 8
allele count: 35
allele frequency: 3.236545219160348e-3
allele num: 10814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.758C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-374C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.679+34C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-374C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-374C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.407C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-374C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 5
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-43052049-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052049
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052049
    reference: chr 8
allele count: 1
allele frequency: 1.207233744597629e-5
allele num: 82834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.739C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-42C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-42C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1090C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-42C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-42C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-42C>A
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-43052068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052068
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052068
    reference: chr 8
allele count: 3
allele frequency: 3.214400514304082e-5
allele num: 93330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.758T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-23T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-23T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1109T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-23T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-23T>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-23T>C
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

8-43052073-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052073
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052073
    reference: chr 8
allele count: 1
allele frequency: 1.027622492601118e-5
allele num: 97312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.763C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-18C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-18C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-18C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-18C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1114C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-18C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

8-43052073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052073
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052073
    reference: chr 8
allele count: 2
allele frequency: 2.055244985202236e-5
allele num: 97312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-18C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-18C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-18C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.763C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-18C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1114C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-18C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

8-43052074-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052074
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052074
    reference: chr 8
allele count: 1
allele frequency: 1.019326429095654e-5
allele num: 98104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1115T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-17T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-17T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.764T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-17T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-17T>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-17T>G
  variant of: http://identifiers.org/hgnc/26527
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

8-43052087-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052087
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052087
    reference: chr 8
allele count: 1
allele frequency: 9.485146260955344e-6
allele num: 105428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1128C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-4C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.777C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-4C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-4C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-4C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-4C>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1465-4C>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-43052088-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052088
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052088
    reference: chr 8
allele count: 1
allele frequency: 9.440731090215627e-6
allele num: 105924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1549-3C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.661-3C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1129C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1465-3C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.680-3C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.778C>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.616-3C>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1465-3C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-43052100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052100
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052100
    reference: chr 8
allele count: 2
allele frequency: 1.811069255288322e-5
allele num: 110432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.625A>G
  hgvsp: ENSP00000429029.1:p.Ile209Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1474A>G
  hgvsp: ENSP00000368965.4:p.Ile492Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.689A>G
  hgvsp: ENSP00000428322.1:p.Ile231Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.670A>G
  hgvsp: ENSP00000297798.7:p.Ile224Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.790A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1558A>G
  hgvsp: ENSP00000389524.2:p.Ile520Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1141A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39087
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile492Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-43052105-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052105
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052105
    reference: chr 8
allele count: 2
allele frequency: 1.792178931144485e-5
allele num: 111596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.630A>G
  hgvsp: ENST00000521576.1:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.795A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.675A>G
  hgvsp: ENST00000297798.7:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.694A>G
  hgvsp: ENST00000524016.1:c.694A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1146A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1479A>G
  hgvsp: ENST00000379644.4:c.1479A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1563A>G
  hgvsp: ENST00000458501.2:c.1563A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu493Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

8-43052114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052114
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052114
    reference: chr 8
allele count: 4
allele frequency: 3.53438068814392e-5
allele num: 113174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.703C>T
  hgvsp: ENST00000524016.1:c.703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1572C>T
  hgvsp: ENST00000458501.2:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.804C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.684C>T
  hgvsp: ENST00000297798.7:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1488C>T
  hgvsp: ENST00000379644.4:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1155C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.639C>T
  hgvsp: ENST00000521576.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr496Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-43052119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052119
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052119
    reference: chr 8
allele count: 1
allele frequency: 8.818031110013756e-6
allele num: 113404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.644C>G
  hgvsp: ENSP00000429029.1:p.Ala215Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1493C>G
  hgvsp: ENSP00000368965.4:p.Ala498Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.809C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.689C>G
  hgvsp: ENSP00000297798.7:p.Ala230Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1160C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1577C>G
  hgvsp: ENSP00000389524.2:p.Ala526Gly
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.708C>G
  hgvsp: ENSP00000428322.1:p.Ala237Gly
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala498Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

8-43052121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052121
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052121
    reference: chr 8
allele count: 8
allele frequency: 7.054673721340387e-5
allele num: 113400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.646C>T
  hgvsp: ENSP00000429029.1:p.Arg216Trp
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1162C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1579C>T
  hgvsp: ENSP00000389524.2:p.Arg527Trp
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.691C>T
  hgvsp: ENSP00000297798.7:p.Arg231Trp
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.710C>T
  hgvsp: ENSP00000428322.1:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.811C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1495C>T
  hgvsp: ENSP00000368965.4:p.Arg499Trp
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg499Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

8-43052122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052122
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052122
    reference: chr 8
allele count: 4
allele frequency: 3.526652677611045e-5
allele num: 113422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.812G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1496G>A
  hgvsp: ENSP00000368965.4:p.Arg499Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.692G>A
  hgvsp: ENSP00000297798.7:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.711G>A
  hgvsp: ENSP00000428322.1:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1580G>A
  hgvsp: ENSP00000389524.2:p.Arg527Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1163G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.647G>A
  hgvsp: ENSP00000429029.1:p.Arg216Gln
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg499Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-43052123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052123
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052123
    reference: chr 8
allele count: 1
allele frequency: 8.83158173628897e-6
allele num: 113230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.648G>A
  hgvsp: ENST00000521576.1:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1497G>A
  hgvsp: ENST00000379644.4:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.712G>A
  hgvsp: ENST00000524016.1:c.712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.693G>A
  hgvsp: ENST00000297798.7:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1581G>A
  hgvsp: ENST00000458501.2:c.1581G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1164G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.813G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg499Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

8-43052133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052133
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052133
    reference: chr 8
allele count: 2
allele frequency: 1.774370985485645e-5
allele num: 112716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1174A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.722A>G
  hgvsp: ENSP00000428322.1:p.Ile242Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1507A>G
  hgvsp: ENSP00000368965.4:p.Ile503Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.823A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.703A>G
  hgvsp: ENSP00000297798.7:p.Ile235Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1591A>G
  hgvsp: ENSP00000389524.2:p.Ile531Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.658A>G
  hgvsp: ENSP00000429029.1:p.Ile220Val
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile503Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-43052135-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052135
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052135
    reference: chr 8
allele count: 2
allele frequency: 1.776893279789616e-5
allele num: 112556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1176C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1593C>G
  hgvsp: ENSP00000389524.2:p.Ile531Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.825C>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.705C>G
  hgvsp: ENSP00000297798.7:p.Ile235Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1509C>G
  hgvsp: ENSP00000368965.4:p.Ile503Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.724C>G
  hgvsp: ENSP00000428322.1:p.Ile242Met
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.660C>G
  hgvsp: ENSP00000429029.1:p.Ile220Met
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile503Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-43052139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052139
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052139
    reference: chr 8
allele count: 1
allele frequency: 8.908209806157355e-6
allele num: 112256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.829A>G
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.709A>G
  hgvsp: ENSP00000297798.7:p.Ile237Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.728A>G
  hgvsp: ENSP00000428322.1:p.Ile244Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1597A>G
  hgvsp: ENSP00000389524.2:p.Ile533Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.664A>G
  hgvsp: ENSP00000429029.1:p.Ile222Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1513A>G
  hgvsp: ENSP00000368965.4:p.Ile505Val
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1180A>G
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35715
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile505Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-43052142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052142
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052142
    reference: chr 8
allele count: 1
allele frequency: 8.944863859172063e-6
allele num: 111796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1600C>T
  hgvsp: ENSP00000389524.2:p.Arg534Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.731C>T
  hgvsp: ENSP00000428322.1:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1516C>T
  hgvsp: ENSP00000368965.4:p.Arg506Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1183C>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.712C>T
  hgvsp: ENSP00000297798.7:p.Arg238Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.667C>T
  hgvsp: ENSP00000429029.1:p.Arg223Ter
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.832C>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6396
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg506Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-43052143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052143
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052143
    reference: chr 8
allele count: 12
allele frequency: 1.0733644609027e-4
allele num: 111798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.668G>A
  hgvsp: ENSP00000429029.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1517G>A
  hgvsp: ENSP00000368965.4:p.Arg506Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1601G>A
  hgvsp: ENSP00000389524.2:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.713G>A
  hgvsp: ENSP00000297798.7:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1184G>A
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.732G>A
  hgvsp: ENSP00000428322.1:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.833G>A
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35102
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg506Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-43052155-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052155
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052155
    reference: chr 8
allele count: 2
allele frequency: 1.823619520023342e-5
allele num: 109672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.744G>T
  hgvsp: ENSP00000428322.1:p.Trp249Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.725G>T
  hgvsp: ENSP00000297798.7:p.Trp242Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1613G>T
  hgvsp: ENSP00000389524.2:p.Trp538Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.680G>T
  hgvsp: ENSP00000429029.1:p.Trp227Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.845G>T
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1529G>T
  hgvsp: ENSP00000368965.4:p.Trp510Leu
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1196G>T
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp510Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-43052161-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43052161
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 43052161
    reference: chr 8
allele count: 1
allele frequency: 9.270246217739544e-6
allele num: 107872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000428322
  ensembl transcript: ENST00000524016
  gene symbol: HGSNAT
  hgvsc: ENST00000524016.1:c.750G>C
  hgvsp: ENSP00000428322.1:p.Cys251Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000389524
  ensembl transcript: ENST00000458501
  gene symbol: HGSNAT
  hgvsc: ENST00000458501.2:c.1619G>C
  hgvsp: ENSP00000389524.2:p.Cys540Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000519705
  gene symbol: HGSNAT
  hgvsc: ENST00000519705.1:n.851G>C
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000368965
  ensembl transcript: ENST00000379644
  gene symbol: HGSNAT
  hgvsc: ENST00000379644.4:c.1535G>C
  hgvsp: ENSP00000368965.4:p.Cys512Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000297798
  ensembl transcript: ENST00000297798
  gene symbol: HGSNAT
  hgvsc: ENST00000297798.7:c.731G>C
  hgvsp: ENSP00000297798.7:p.Cys244Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165102
  ensembl protein: ENSP00000429029
  ensembl transcript: ENST00000521576
  gene symbol: HGSNAT
  hgvsc: ENST00000521576.1:c.686G>C
  hgvsp: ENSP00000429029.1:p.Cys229Ser
  variant of: http://identifiers.org/hgnc/26527
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000165102
  ensembl transcript: ENST00000523989
  gene symbol: HGSNAT
  hgvsc: ENST00000523989.1:n.1202G>C
  variant of: http://identifiers.org/hgnc/26527
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys512Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

GenotypeQuality
all individuals: 3117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12116
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.368496e6

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 1338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.830363015629405e-5
allele num: 63854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.129177958446251e-4
allele num: 8856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.154e0

DP
type: SiteQuality
SIO_000300: 1.364008e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeQuality
all individuals: 3339
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5790
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.265062146177931e-4
allele num: 63238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.282062984938384e-4
allele num: 8764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.346669e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7481
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 2.079938e6

GenotypeQuality
all individuals: 1895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30176
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
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: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.864e1

MQRankSum
type: SiteQuality
SIO_000300: -1.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 2.082478e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 8620
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.088534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 16392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.855e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 2.097227e6

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10395
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 2.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.878e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.099496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

GenotypeQuality
all individuals: 32438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7444
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1029
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350297065354378e-4
allele num: 66652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.099962e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 3081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.247e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 2.100917e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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: 6614
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: 16472
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

DP
type: SiteQuality
SIO_000300: 2.104596e6

VQSLOD
type: SiteQuality
SIO_000300: -1.439e0

MQ
type: SiteQuality
SIO_000300: 5.759e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

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

GenotypeQuality
all individuals: 2757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7440
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.105434e6

FS
type: SiteQuality
SIO_000300: 2.299e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.208e1

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
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: 8626
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 2.106184e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 2.105933e6

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 2.392e0

QD
type: SiteQuality
SIO_000300: 1.011e1

GenotypeQuality
all individuals: 10478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7438
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 4.356e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

DP
type: SiteQuality
SIO_000300: 2.106449e6

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 4.092e0

DP
type: SiteQuality
SIO_000300: 2.106575e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

FS
type: SiteQuality
SIO_000300: 5.763e0

DP
type: SiteQuality
SIO_000300: 2.106546e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 7.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1923
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.27e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.246e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

DP
type: SiteQuality
SIO_000300: 2.106635e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

FS
type: SiteQuality
SIO_000300: 9.038e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 10479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

DP
type: SiteQuality
SIO_000300: 2.106614e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3101
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 2.106614e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.19e1

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

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

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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: 16512
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.106611e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.23e-1

FS
type: SiteQuality
SIO_000300: 1.956e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.358e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 8626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.106579e6

QD
type: SiteQuality
SIO_000300: 6.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.162e0

VQSLOD
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.106503e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.144e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 1.979e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.248e0

FS
type: SiteQuality
SIO_000300: 1.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.106537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 32912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

FS
type: SiteQuality
SIO_000300: 7.617e0

DP
type: SiteQuality
SIO_000300: 2.106675e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.993e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 2.106291e6

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 3.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.912e1

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

GenotypeQuality
all individuals: 2759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 2.033e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 2.105851e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 66708
num of homozygotes: 0

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

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: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

FS
type: SiteQuality
SIO_000300: 2.874e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.105665e6

VQSLOD
type: SiteQuality
SIO_000300: -3.878e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

GenotypeQuality
all individuals: 7427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1032
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

QD
type: SiteQuality
SIO_000300: 1.09e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 2.104475e6

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
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: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 2.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.493000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.039213e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.92e1

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

DP
type: SiteQuality
SIO_000300: 1.937111e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
all individuals: 24037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7404
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-4
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.422e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
type: SiteQuality
SIO_000300: 1.936225e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 7431
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 1808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16536
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.960544050974145e-3
allele num: 16322
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.781173164734808e-5
allele num: 11388
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 1.844798e6

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

GenotypeQuality
all individuals: 192
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.403846153846154e-4
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.063e0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.582e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 1.836372e6

GenotypeQuality
all individuals: 1797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073424101791806e-5
allele num: 65074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

FS
type: SiteQuality
SIO_000300: 2.424e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.820132e6

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5196
bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.67e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.69854e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 998
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.665689149560117e-4
allele num: 2728
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.73872e5

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 2.40128068303095e-3
allele num: 7496
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

QD
type: SiteQuality
SIO_000300: 1.3e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 1.7374e5

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 233
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
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variant carriers: 0

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

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1022
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.941747572815534e-2
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.08695652173913e-2
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 1.74738e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.366e1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2602
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

FS
type: SiteQuality
SIO_000300: 6.707e0

DP
type: SiteQuality
SIO_000300: 1.71908e5

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
all individuals: 4424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.70754e5

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1030
bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

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

East Asian
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: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.661337596589396e-4
allele num: 7506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 6.065e0

QD
type: SiteQuality
SIO_000300: 1.138e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 1.71144e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.70401e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

FS
type: SiteQuality
SIO_000300: 8.159000000000001e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 489
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 8.333333333333333e-3
allele num: 120
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.996802557953637e-4
allele num: 7506
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.020408163265306e-2
allele num: 196
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.77e5

FS
type: SiteQuality
SIO_000300: 3.613e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.619999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.73e-2

DP
type: SiteQuality
SIO_000300: 1.77162e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 94
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 120
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.79e-2

DP
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SIO_000300: 1.76978e5

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.918e0

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1027
bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.451378809869376e-3
allele num: 2756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.652e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.77567e5

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: -9.814000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.719e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 1.928e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.7786e5

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
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variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 74
allele frequency: 9.869298479594559e-3
allele num: 7498
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.474576271186441e-3
allele num: 118
num of homozygotes: 0

African
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allele count: 17
allele frequency: 8.25242718446602e-2
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.78461e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2269
bin: 2.5e0
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GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.5e0
variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.62844702467344e-4
allele num: 2756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.041666666666667e-2
allele num: 96
num of homozygotes: 0

African
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allele count: 33
allele frequency: 1.473214285714286e-1
allele num: 224
num of homozygotes: 3

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.34e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 1.75852e5

QD
type: SiteQuality
SIO_000300: 1.643e1

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1012
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2188
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1403
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GenotypeQuality
all individuals: 8391
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.207018318252042e-5
allele num: 45310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11998
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5862
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5178
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
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allele count: 3
allele frequency: 5.825468950250495e-5
allele num: 51498
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12800
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.371645e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

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

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

African
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: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.858390633711206e-5
allele num: 53810
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

InbreedingCoeff
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SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 2336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5181
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.716781267422412e-5
allele num: 53810
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422938e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

FS
type: SiteQuality
SIO_000300: 4.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.841824142630862e-5
allele num: 54294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.431332e6

VQSLOD
type: SiteQuality
SIO_000300: -1.431e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

GenotypeQuality
all individuals: 1266
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.147578609134726e-4
allele num: 8714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.518175e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
all individuals: 1199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1106
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36455
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variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.143118427069044e-4
allele num: 8748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.933e0

FS
type: SiteQuality
SIO_000300: 1.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

DP
type: SiteQuality
SIO_000300: 1.524634e6

QD
type: SiteQuality
SIO_000300: 5.08e0

GenotypeQuality
all individuals: 414
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3035
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.253619651862698e-5
allele num: 61470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 1.573413e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 1.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.43605359317905e-4
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62098
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.586428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 1.013e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 41695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.250270855904659e-4
allele num: 9230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.333582228859437e-5
allele num: 10714
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.605993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.326e1

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

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 193
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GenotypeQuality
all individuals: 41371
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20627261761158e-4
allele num: 8290
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63056
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.60769e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 6.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 888
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.082485386447283e-4
allele num: 9238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.109666782917473e-4
allele num: 63082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 8.337e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

DP
type: SiteQuality
SIO_000300: 1.609269e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5183
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.157562361856647e-4
allele num: 6334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.170275496940684e-5
allele num: 63086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.876e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

DP
type: SiteQuality
SIO_000300: 1.60875e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.588057805304113e-5
allele num: 62970
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.605087e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.772314777190844e-5
allele num: 14766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.585791309863622e-4
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.594908e6

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
SIO_000300: 3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.428363283147159e-4
allele num: 8236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 1.069e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.593752e6

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 38946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 454
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-4
allele num: 6288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14740
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.588581e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -6.425999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 650
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.610357821507939e-5
allele num: 62098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 1.584062e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.167710318540703e-4
allele num: 14692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 2.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.584537e6

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.375326640077018e-4
allele num: 14542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60806
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
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African
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
allele num: 14390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672968180145214e-5
allele num: 59774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 1.520672e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3