http://identifiers.org/exac.variant/13-31712746-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712746
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712746
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 116962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2077-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2215-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1666-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1737-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.304-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2086-41T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2209-41T>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/13-31712748-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712748
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712748
    reference: chr 13
allele count: 2
allele frequency: 1.712152861007431e-5
allele num: 116812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2077-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2086-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1737-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2209-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2215-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1666-43T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.304-43T>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

13-31712870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712870
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712870
    reference: chr 13
allele count: 198
allele frequency: 1.647199760407308e-3
allele num: 120204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+48A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+48A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 9.75e1
  variant carriers: 198
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-31712886-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712886
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712886
    reference: chr 13
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+32G>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

13-31712886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712886
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712886
    reference: chr 13
allele count: 3
allele frequency: 2.493848507016027e-5
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+32G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+32G>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10597
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

13-31712888-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712888
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712888
    reference: chr 13
allele count: 2
allele frequency: 1.661157162079104e-5
allele num: 120398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+30A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+30A>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

13-31712888-TCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712888
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712884
    reference: chr 13
allele count: 3
allele frequency: 2.491735743118657e-5
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+26_2214+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+26_2076+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+26_2208+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+26_2085+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+26_1665+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+26_303+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+26_*1736+29delGAGG
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10647
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: TCCTC
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-31712897-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712897
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712897
    reference: chr 13
allele count: 10
allele frequency: 8.291736455448499e-5
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+21A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+21A>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17575
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

13-31712901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712901
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712901
    reference: chr 13
allele count: 7
allele frequency: 5.800944725283832e-5
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+17G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+17G>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

13-31712902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712902
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712902
    reference: chr 13
allele count: 8
allele frequency: 6.6254782767131e-5
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+16T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+16T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

13-31712910-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712910
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712910
    reference: chr 13
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+8A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+8A>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2208+8A>C
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

13-31712911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712911
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712911
    reference: chr 13
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+7C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+7C>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2208+7C>G
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

13-31712915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712915
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712915
    reference: chr 13
allele count: 53
allele frequency: 4.381831109347355e-4
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2208+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2085+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1665+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.303+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2214+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2076+3G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1736+3G>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2208+3G>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

13-31712929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712929
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712929
    reference: chr 13
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2065T>C
  hgvsp: ENSP00000369768.4:p.Phe689Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2074T>C
  hgvsp: ENSP00000369769.4:p.Phe692Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1725T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2197T>C
  hgvsp: ENSP00000318687.5:p.Phe733Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1654T>C
  hgvsp: ENSP00000388778.2:p.Phe552Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2203T>C
  hgvsp: ENSP00000396090.2:p.Phe735Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.292T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe733Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

13-31712932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712932
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712932
    reference: chr 13
allele count: 6
allele frequency: 4.955319535521382e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.289G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2200G>A
  hgvsp: ENSP00000396090.2:p.Asp734Asn
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1651G>A
  hgvsp: ENSP00000388778.2:p.Asp551Asn
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2194G>A
  hgvsp: ENSP00000318687.5:p.Asp732Asn
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1722G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2062G>A
  hgvsp: ENSP00000369768.4:p.Asp688Asn
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2071G>A
  hgvsp: ENSP00000369769.4:p.Asp691Asn
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp732Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

13-31712957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712957
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712957
    reference: chr 13
allele count: 4
allele frequency: 3.302182742792986e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.264G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2175G>A
  hgvsp: ENST00000445273.2:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2046G>A
  hgvsp: ENST00000380406.5:c.2046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1697G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2169G>A
  hgvsp: ENST00000320027.5:c.2169G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2037G>A
  hgvsp: ENST00000380405.4:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1626G>A
  hgvsp: ENST00000429785.2:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu723Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

13-31712961-C-CTCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712961
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712965
    reference: chr 13
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: CTCTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2038_2041dupCAGA
  hgvsp: ENSP00000369769.4:p.Arg681ThrfsTer12
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1618_1621dupCAGA
  hgvsp: ENSP00000388778.2:p.Arg541ThrfsTer12
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2161_2164dupCAGA
  hgvsp: ENSP00000318687.5:p.Arg722ThrfsTer12
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1689_*1692dupCAGA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2167_2170dupCAGA
  hgvsp: ENSP00000396090.2:p.Arg724ThrfsTer12
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.256_259dupCAGA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2029_2032dupCAGA
  hgvsp: ENSP00000369768.4:p.Arg678ThrfsTer12
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg722ThrfsTer12
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

13-31712971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712971
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712971
    reference: chr 13
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1612C>T
  hgvsp: ENST00000429785.2:c.1612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2023C>T
  hgvsp: ENST00000380405.4:c.2023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2155C>T
  hgvsp: ENST00000320027.5:c.2155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.250C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2161C>T
  hgvsp: ENST00000445273.2:c.2161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1683C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2032C>T
  hgvsp: ENST00000380406.5:c.2032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu719Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-31712979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712979
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712979
    reference: chr 13
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.242T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1604T>C
  hgvsp: ENSP00000388778.2:p.Phe535Ser
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2015T>C
  hgvsp: ENSP00000369768.4:p.Phe672Ser
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2024T>C
  hgvsp: ENSP00000369769.4:p.Phe675Ser
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2147T>C
  hgvsp: ENSP00000318687.5:p.Phe716Ser
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2153T>C
  hgvsp: ENSP00000396090.2:p.Phe718Ser
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1675T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe716Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

13-31712986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712986
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712986
    reference: chr 13
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2017A>G
  hgvsp: ENSP00000369769.4:p.Lys673Glu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2146A>G
  hgvsp: ENSP00000396090.2:p.Lys716Glu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2008A>G
  hgvsp: ENSP00000369768.4:p.Lys670Glu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2140A>G
  hgvsp: ENSP00000318687.5:p.Lys714Glu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1597A>G
  hgvsp: ENSP00000388778.2:p.Lys533Glu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1668A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.235A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys714Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/13-31712991-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712991
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712991
    reference: chr 13
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1592G>T
  hgvsp: ENSP00000388778.2:p.Arg531Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2135G>T
  hgvsp: ENSP00000318687.5:p.Arg712Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.230G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2012G>T
  hgvsp: ENSP00000369769.4:p.Arg671Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2141G>T
  hgvsp: ENSP00000396090.2:p.Arg714Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1663G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2003G>T
  hgvsp: ENSP00000369768.4:p.Arg668Leu
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg712Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

13-31712991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712991
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712991
    reference: chr 13
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.230G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1663G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2135G>A
  hgvsp: ENSP00000318687.5:p.Arg712Gln
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2003G>A
  hgvsp: ENSP00000369768.4:p.Arg668Gln
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2012G>A
  hgvsp: ENSP00000369769.4:p.Arg671Gln
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2141G>A
  hgvsp: ENSP00000396090.2:p.Arg714Gln
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1592G>A
  hgvsp: ENSP00000388778.2:p.Arg531Gln
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg712Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

13-31712992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31712992
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712992
    reference: chr 13
allele count: 3
allele frequency: 2.480240748702007e-5
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.229C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2011C>T
  hgvsp: ENSP00000369769.4:p.Arg671Trp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1591C>T
  hgvsp: ENSP00000388778.2:p.Arg531Trp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2140C>T
  hgvsp: ENSP00000396090.2:p.Arg714Trp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2134C>T
  hgvsp: ENSP00000318687.5:p.Arg712Trp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.2002C>T
  hgvsp: ENSP00000369768.4:p.Arg668Trp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1662C>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg712Trp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

13-31713002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713002
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713002
    reference: chr 13
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1652A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2130A>G
  hgvsp: ENST00000445273.2:c.2130A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.2001A>G
  hgvsp: ENST00000380406.5:c.2001A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1581A>G
  hgvsp: ENST00000429785.2:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2124A>G
  hgvsp: ENST00000320027.5:c.2124A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1992A>G
  hgvsp: ENST00000380405.4:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.219A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu708Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

13-31713030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713030
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713030
    reference: chr 13
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.191G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1973G>A
  hgvsp: ENSP00000369769.4:p.Gly658Asp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1624G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1964G>A
  hgvsp: ENSP00000369768.4:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1553G>A
  hgvsp: ENSP00000388778.2:p.Gly518Asp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2102G>A
  hgvsp: ENSP00000396090.2:p.Gly701Asp
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2096G>A
  hgvsp: ENSP00000318687.5:p.Gly699Asp
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly699Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

13-31713037-TCTAAAATAAAATGTAATAAATTAATAGTTATCATAATTTTATTTTAAAGTCTATAGTTTAAAACACAAGTACCACCTTTTGGGGGAGAAAACGACCTAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713037
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31712938
    reference: chr 13
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: TCTAAAATAAAATGTAATAAATTAATAGTTATCATAATTTTATTTTAAAGTCTATAGTTTAAAACACAAGTACCACCTTTTGGGGGAGAAAACGACCTAC
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

13-31713054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713054
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713054
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 108228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-17A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-17A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

13-31713054-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713054
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713052
    reference: chr 13
allele count: 2
allele frequency: 1.84795062275936e-5
allele num: 108228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-19_2089-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-19_2095-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-19_*1617-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-19_184-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-19_1546-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-19_1957-18delTT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-19_1966-18delTT
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: TAA
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

13-31713061-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713061
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713061
    reference: chr 13
allele count: 1
allele frequency: 9.685230024213076e-6
allele num: 103250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-24T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-24T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

13-31713062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713062
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713062
    reference: chr 13
allele count: 15
allele frequency: 1.44782054746921e-4
allele num: 103604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-25A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-25A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

13-31713062-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713062
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713062
    reference: chr 13
allele count: 1
allele frequency: 9.652136983128064e-6
allele num: 103604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-25A>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-25A>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

13-31713065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713065
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713065
    reference: chr 13
allele count: 34
allele frequency: 3.29144804352456e-4
allele num: 103298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-28A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-28A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5347
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

13-31713065-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713065
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713063
    reference: chr 13
allele count: 1
allele frequency: 9.680729539778118e-6
allele num: 103298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-30_184-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-30_2095-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-30_1957-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-30_1546-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-30_2089-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-30_1966-29delTA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-30_*1617-29delTA
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: TTA
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-31713066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713066
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713066
    reference: chr 13
allele count: 1
allele frequency: 9.639669166554203e-6
allele num: 103738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-29A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-29A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

13-31713066-TATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713066
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713063
    reference: chr 13
allele count: 1
allele frequency: 9.639669166554203e-6
allele num: 103738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-32_2095-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-32_184-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-32_1546-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-32_2089-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-32_1957-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-32_*1617-30delGAT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-32_1966-30delGAT
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: TATC
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/13-31713069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713069
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713069
    reference: chr 13
allele count: 1
allele frequency: 9.608363119259003e-6
allele num: 104076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-32G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-32G>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

13-31713070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713070
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713070
    reference: chr 13
allele count: 1
allele frequency: 9.583317361137732e-6
allele num: 104348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-33T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-33T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-31713083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713083
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713083
    reference: chr 13
allele count: 1
allele frequency: 9.406983744732089e-6
allele num: 106304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-46T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-46T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

13-31713083-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713083
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713083
    reference: chr 13
allele count: 1
allele frequency: 9.406983744732089e-6
allele num: 106304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-46T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-46T>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

13-31713085-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713085
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713085
    reference: chr 13
allele count: 1
allele frequency: 9.308906761989872e-6
allele num: 107424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-48T>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-48T>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

13-31713086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713086
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713086
    reference: chr 13
allele count: 1
allele frequency: 9.264577813189053e-6
allele num: 107938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1957-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1546-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2095-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.184-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1617-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2089-49C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1966-49C>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18006
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

13-31713088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713088
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713088
    reference: chr 13
allele count: 1
allele frequency: 9.147289658074313e-6
allele num: 109322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+49G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+49G>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 9.75e1
  variant carriers: 1
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: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

13-31713099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713099
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713099
    reference: chr 13
allele count: 1
allele frequency: 8.56179044161715e-6
allele num: 116798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+38T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+38T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-31713103-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713103
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713104
    reference: chr 13
allele count: 1
allele frequency: 8.462814393554721e-6
allele num: 118164
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+33dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+33dupT
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

13-31713108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713108
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713108
    reference: chr 13
allele count: 2
allele frequency: 1.676755143446403e-5
allele num: 119278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+29T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+29T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-31713112-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713112
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713112
    reference: chr 13
allele count: 8
allele frequency: 6.673674024392279e-5
allele num: 119874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+25G>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+25G>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27284
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

13-31713113-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713113
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713114
    reference: chr 13
allele count: 50
allele frequency: 4.167778074153107e-4
allele num: 119968
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+23dupA
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+23dupA
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27236
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 43705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

13-31713117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713117
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713117
    reference: chr 13
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+20A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+20A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6646
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

13-31713130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713130
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713130
    reference: chr 13
allele count: 8
allele frequency: 6.629760997116054e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.183+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1545+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2094+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2088+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1965+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1956+7C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1616+7C>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2088+7C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

13-31713139-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713139
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713139
    reference: chr 13
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2092A>T
  hgvsp: ENSP00000396090.2:p.Met698Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.181A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1543A>T
  hgvsp: ENSP00000388778.2:p.Met515Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1963A>T
  hgvsp: ENSP00000369769.4:p.Met655Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1954A>T
  hgvsp: ENSP00000369768.4:p.Met652Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2086A>T
  hgvsp: ENSP00000318687.5:p.Met696Leu
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1614A>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met696Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

13-31713144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713144
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713144
    reference: chr 13
allele count: 28
allele frequency: 2.316308466107443e-4
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1949A>G
  hgvsp: ENSP00000369768.4:p.Glu650Gly
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.176A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1958A>G
  hgvsp: ENSP00000369769.4:p.Glu653Gly
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2081A>G
  hgvsp: ENSP00000318687.5:p.Glu694Gly
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1609A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2087A>G
  hgvsp: ENSP00000396090.2:p.Glu696Gly
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1538A>G
  hgvsp: ENSP00000388778.2:p.Glu513Gly
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 9.75e1
  variant carriers: 27
hgvs: p.Glu694Gly
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

13-31713152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713152
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713152
    reference: chr 13
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1950G>A
  hgvsp: ENST00000380406.5:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.168G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2079G>A
  hgvsp: ENST00000445273.2:c.2079G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1530G>A
  hgvsp: ENST00000429785.2:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2073G>A
  hgvsp: ENST00000320027.5:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1941G>A
  hgvsp: ENST00000380405.4:c.1941G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1601G>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys691Lys
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

13-31713164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713164
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713164
    reference: chr 13
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.156A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2061A>G
  hgvsp: ENST00000320027.5:c.2061A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1929A>G
  hgvsp: ENST00000380405.4:c.1929A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1518A>G
  hgvsp: ENST00000429785.2:c.1518A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1938A>G
  hgvsp: ENST00000380406.5:c.1938A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1589A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2067A>G
  hgvsp: ENST00000445273.2:c.2067A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala687Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

13-31713170-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713170
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713170
    reference: chr 13
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1583A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1932A>G
  hgvsp: ENST00000380406.5:c.1932A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2055A>G
  hgvsp: ENST00000320027.5:c.2055A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1512A>G
  hgvsp: ENST00000429785.2:c.1512A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1923A>G
  hgvsp: ENST00000380405.4:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.150A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2061A>G
  hgvsp: ENST00000445273.2:c.2061A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys685Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

13-31713173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713173
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713173
    reference: chr 13
allele count: 50
allele frequency: 4.131138872364334e-4
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1929T>C
  hgvsp: ENST00000380406.5:c.1929T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2052T>C
  hgvsp: ENST00000320027.5:c.2052T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1580T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1509T>C
  hgvsp: ENST00000429785.2:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2058T>C
  hgvsp: ENST00000445273.2:c.2058T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.147T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1920T>C
  hgvsp: ENST00000380405.4:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala684Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-31713182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713182
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713182
    reference: chr 13
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1571G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2049G>A
  hgvsp: ENST00000445273.2:c.2049G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2043G>A
  hgvsp: ENST00000320027.5:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.138G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1500G>A
  hgvsp: ENST00000429785.2:c.1500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1911G>A
  hgvsp: ENST00000380405.4:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1920G>A
  hgvsp: ENST00000380406.5:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu681Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

13-31713197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713197
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713197
    reference: chr 13
allele count: 3
allele frequency: 2.478642364955302e-5
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1896G>A
  hgvsp: ENST00000380405.4:c.1896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2034G>A
  hgvsp: ENST00000445273.2:c.2034G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1905G>A
  hgvsp: ENST00000380406.5:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1556G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.123G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1485G>A
  hgvsp: ENST00000429785.2:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2028G>A
  hgvsp: ENST00000320027.5:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu676Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

13-31713218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713218
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713218
    reference: chr 13
allele count: 4
allele frequency: 3.307808080975142e-5
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2013C>T
  hgvsp: ENST00000445273.2:c.2013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1875C>T
  hgvsp: ENST00000380405.4:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1464C>T
  hgvsp: ENST00000429785.2:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.102C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1535C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1884C>T
  hgvsp: ENST00000380406.5:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2007C>T
  hgvsp: ENST00000320027.5:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu669Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

13-31713221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713221
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713221
    reference: chr 13
allele count: 56
allele frequency: 4.632616932214887e-4
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1461C>G
  hgvsp: ENST00000429785.2:c.1461C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1881C>G
  hgvsp: ENST00000380406.5:c.1881C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.99C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2010C>G
  hgvsp: ENST00000445273.2:c.2010C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1532C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1872C>G
  hgvsp: ENST00000380405.4:c.1872C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2004C>G
  hgvsp: ENST00000320027.5:c.2004C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44506
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu668Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/13-31713222-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713222
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713222
    reference: chr 13
allele count: 2
allele frequency: 1.654314452091054e-5
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1871T>G
  hgvsp: ENSP00000369768.4:p.Leu624Arg
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1460T>G
  hgvsp: ENSP00000388778.2:p.Leu487Arg
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1880T>G
  hgvsp: ENSP00000369769.4:p.Leu627Arg
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2009T>G
  hgvsp: ENSP00000396090.2:p.Leu670Arg
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1531T>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2003T>G
  hgvsp: ENSP00000318687.5:p.Leu668Arg
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.98T>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu668Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

13-31713223-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713223
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713223
    reference: chr 13
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1879C>G
  hgvsp: ENSP00000369769.4:p.Leu627Val
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1530C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.2002C>G
  hgvsp: ENSP00000318687.5:p.Leu668Val
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.2008C>G
  hgvsp: ENSP00000396090.2:p.Leu670Val
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1870C>G
  hgvsp: ENSP00000369768.4:p.Leu624Val
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1459C>G
  hgvsp: ENSP00000388778.2:p.Leu487Val
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.97C>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu668Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

13-31713234-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713234
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713234
    reference: chr 13
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1859A>T
  hgvsp: ENSP00000369768.4:p.Asn620Ile
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1868A>T
  hgvsp: ENSP00000369769.4:p.Asn623Ile
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1991A>T
  hgvsp: ENSP00000318687.5:p.Asn664Ile
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1448A>T
  hgvsp: ENSP00000388778.2:p.Asn483Ile
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1997A>T
  hgvsp: ENSP00000396090.2:p.Asn666Ile
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.86A>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1519A>T
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn664Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

13-31713236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713236
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713236
    reference: chr 13
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1517A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1995A>G
  hgvsp: ENST00000445273.2:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1989A>G
  hgvsp: ENST00000320027.5:c.1989A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1857A>G
  hgvsp: ENST00000380405.4:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1866A>G
  hgvsp: ENST00000380406.5:c.1866A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1446A>G
  hgvsp: ENST00000429785.2:c.1446A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.84A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln663Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

13-31713250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713250
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713250
    reference: chr 13
allele count: 2
allele frequency: 1.662344570782632e-5
allele num: 120312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-6G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.70G>A
  variant of: http://identifiers.org/hgnc/16969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6655
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1981-6G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-31713259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713259
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713259
    reference: chr 13
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-15A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-15A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-15A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.61A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-15A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-15A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-15A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

13-31713266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713266
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713266
    reference: chr 13
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-22T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.54T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-22T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-22T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-22T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-22T>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-22T>C
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6361
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

13-31713268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713268
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713268
    reference: chr 13
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-24A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-24A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.52A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-24A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-24A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-24A>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-24A>G
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

13-31713278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713278
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713278
    reference: chr 13
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-34G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-34G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-34G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.42G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-34G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-34G>C
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-34G>C
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

13-31713278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713278
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713278
    reference: chr 13
allele count: 3
allele frequency: 2.533056385835149e-5
allele num: 118434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-34G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-34G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-34G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.42G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-34G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-34G>A
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-34G>A
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

13-31713279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713279
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713279
    reference: chr 13
allele count: 10
allele frequency: 8.453228287883143e-5
allele num: 118298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-35C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-35C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-35C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.41C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-35C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-35C>T
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-35C>T
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

13-31713279-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713279
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713279
    reference: chr 13
allele count: 2
allele frequency: 1.690645657576629e-5
allele num: 118298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-35C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.41C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-35C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-35C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-35C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-35C>G
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-35C>G
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

13-31713280-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31713280
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 31713281
    reference: chr 13
allele count: 4
allele frequency: 3.381691522099354e-5
allele num: 118284
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000318687
  ensembl transcript: ENST00000320027
  gene symbol: HSPH1
  hgvsc: ENST00000320027.5:c.1981-37dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000473512
  ensembl transcript: ENST00000602786
  gene symbol: HSPH1
  hgvsc: ENST00000602786.1:c.*1509-37dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369769
  ensembl transcript: ENST00000380406
  gene symbol: HSPH1
  hgvsc: ENST00000380406.5:c.1858-37dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000369768
  ensembl transcript: ENST00000380405
  gene symbol: HSPH1
  hgvsc: ENST00000380405.4:c.1849-37dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000388778
  ensembl transcript: ENST00000429785
  gene symbol: HSPH1
  hgvsc: ENST00000429785.2:c.1438-37dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120694
  ensembl transcript: ENST00000469538
  gene symbol: HSPH1
  hgvsc: ENST00000469538.2:n.39dupT
  variant of: http://identifiers.org/hgnc/16969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120694
  ensembl protein: ENSP00000396090
  ensembl transcript: ENST00000445273
  gene symbol: HSPH1
  hgvsc: ENST00000445273.2:c.1987-37dupT
  variant of: http://identifiers.org/hgnc/16969
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14683
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.897018e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.439e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32244
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052130387010133e-5
allele num: 65528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13562
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 8.99e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 2.893752e6

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271951831409934e-5
allele num: 15944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.861921431349669e-4
allele num: 10284
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.355704697986577e-3
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 144
allele frequency: 2.171880184609816e-3
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 44
allele frequency: 3.814808392578463e-3
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

DP
type: SiteQuality
SIO_000300: 2.004187e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

FS
type: SiteQuality
SIO_000300: 6.68e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.258605582676179e-5
allele num: 15978
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.128e1

FS
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 2.004388e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.877581674802854e-4
allele num: 15978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.004388e6

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 3602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33118
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013228071232712e-5
allele num: 66374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.006362e6

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.285e1

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

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.245640259093174e-4
allele num: 16056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.006362e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

GenotypeQuality
all individuals: 3092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10774
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.182762458266354e-4
allele num: 16174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 2.016188e6

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

FS
type: SiteQuality
SIO_000300: 1.247e0

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

GenotypeQuality
all individuals: 3619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.525133947384263e-5
allele num: 66444
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.019733e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 2.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.254974548819991e-4
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 2.019691e6

QD
type: SiteQuality
SIO_000300: 1.119e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 1.892e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 8.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.023066e6

GenotypeQuality
all individuals: 3099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

VQSLOD
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SIO_000300: -2.716e-1

BaseQRankSum
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SIO_000300: -4.42e0

QD
type: SiteQuality
SIO_000300: 1.724e1

DP
type: SiteQuality
SIO_000300: 2.023657e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 53

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

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

European (Non-Finnish)
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allele count: 52
allele frequency: 7.816492799807594e-4
allele num: 66526
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
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SIO_000300: 1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

Latino
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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: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 2.662e0

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 2.025949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e0

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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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.643429681807141e-4
allele num: 16468
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
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SIO_000300: 2.026344e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.005645306588193e-5
allele num: 66604
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.027149e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.31e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002552169343942e-5
allele num: 66610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.026892e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
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SIO_000300: 2.026437e6

ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.29e0

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

South Asian
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allele num: 16494
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6594
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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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
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allele num: 8648
num of homozygotes: 0

Other
type: Population
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Latino
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allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
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African
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allele frequency: 9.706853038245001e-5
allele num: 10302
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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
all individuals: 3105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.023818e6

VQSLOD
type: SiteQuality
SIO_000300: -1.053e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0628e1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.25e1
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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: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 9.75e1
variant carriers: 3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.896e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.023656e6

GenotypeQuality
all individuals: 10910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.020846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 2.217e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9.25e1
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
all individuals: 3040
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 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: 1
allele frequency: 1.516254245511887e-5
allele num: 65952
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.985641e6

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 991
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526531110704036e-5
allele num: 65508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.708e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.909735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQRankSum
type: SiteQuality
SIO_000300: -4.952e0

VQSLOD
type: SiteQuality
SIO_000300: -3.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.152e0

FS
type: SiteQuality
SIO_000300: 1.8944e1

QD
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6183
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 1.517488e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 2.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.632e1

GenotypeQuality
all individuals: 3218
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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
all individuals: 6183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.387648633083776e-5
allele num: 59038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.116e0

DP
type: SiteQuality
SIO_000300: 1.517488e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

GenotypeQuality
all individuals: 1780
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.775820429038216e-5
allele num: 56312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 8.558e0

VQSLOD
type: SiteQuality
SIO_000300: -3.623e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

DP
type: SiteQuality
SIO_000300: 1.452012e6

GenotypeQuality
all individuals: 1774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
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GenotypeQuality
all individuals: 1478
bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 1787
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variant carriers: 0

GenotypeQuality
all individuals: 21749
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.208103130755064e-5
allele num: 10860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.314703925482369e-4
allele num: 15030
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.451097e6

QD
type: SiteQuality
SIO_000300: 1.668e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 5.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
all individuals: 1774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
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GenotypeQuality
all individuals: 2677
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
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GenotypeQuality
all individuals: 3229
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77072635194957e-5
allele num: 56474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 5.317e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.451097e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

QD
type: SiteQuality
SIO_000300: 1.668e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.75e1
variant carriers: 29

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.776325138553361e-5
allele num: 56296
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: 14978
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 5.165936130244208e-3
allele num: 6388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 1.817e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.441463e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56296
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.256281407035176e-4
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.817e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.441463e6

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.664889362836577e-5
allele num: 15004
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5263e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.440716e6

QD
type: SiteQuality
SIO_000300: 8.74e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.664889362836577e-5
allele num: 15004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
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: 10860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 1.5263e1

DP
type: SiteQuality
SIO_000300: 1.440716e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764228502875693e-5
allele num: 56682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.342e0

VQSLOD
type: SiteQuality
SIO_000300: -3.017e0

FS
type: SiteQuality
SIO_000300: 1.9953e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.440329e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.5e0

GenotypeQuality
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bin: 2.5e0
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2620
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variant carriers: 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: 15072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759014951627089e-5
allele num: 56850
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.440135e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

FS
type: SiteQuality
SIO_000300: 2.706e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.485828e6

GenotypeQuality
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bin: 7.5e0
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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.485828e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58456
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10906
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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: 6.528267397832615e-5
allele num: 15318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.70375166115787e-5
allele num: 58694
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.54e-1

QD
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MQRankSum
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SIO_000300: -6.46e-1

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

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.682085786375105e-5
allele num: 59450
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.741e1

DP
type: SiteQuality
SIO_000300: 1.537413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e0

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10050
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63786
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8320
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-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

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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FS
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VQSLOD
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MQ
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SIO_000300: 6.055e1

ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.3e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
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SIO_000300: -1.096e0

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: 2

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.220256253813301e-4
allele num: 16390
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
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SIO_000300: 4.94e0

QD
type: SiteQuality
SIO_000300: 1.583e1

ReadPosRankSum
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SIO_000300: 1.55e0

DP
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SIO_000300: 1.652851e6

FS
type: SiteQuality
SIO_000300: 9.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.036560184622859e-5
allele num: 65864
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11284
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East Asian
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allele frequency: 6.999533364442371e-4
allele num: 8572
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African
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.608e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

VQSLOD
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SIO_000300: 2.04e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
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South Asian
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Other
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African
type: Population
allele count: 46
allele frequency: 4.45046439628483e-3
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Latino
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allele frequency: 3.54421407052986e-4
allele num: 11286
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65932
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

Latino
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East Asian
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Other
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African
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European (Finnish)
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South Asian
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ReadPosRankSum
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DP
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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DP
type: SiteQuality
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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QD
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SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
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allele count: 27
allele frequency: 2.367175170962651e-3
allele num: 11406
num of homozygotes: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.677357e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.518e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

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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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
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South Asian
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allele frequency: 0.0e0
allele num: 16496
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
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DP
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SIO_000300: 1.677134e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

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

Latino
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allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

South Asian
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FS
type: SiteQuality
SIO_000300: 2.411e0

DP
type: SiteQuality
SIO_000300: 1.677978e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.456e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.593e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.541e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

African
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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
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num of homozygotes: 0

Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.846e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.677791e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

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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variant carriers: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.495892326516343e-4
allele num: 11442
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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African
type: Population
allele count: 46
allele frequency: 4.425630171252646e-3
allele num: 10394
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.679758e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.67867e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
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allele num: 904
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East Asian
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allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

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

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.628558204119417e-4
allele num: 8642
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MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.024456276509341e-5
allele num: 66486
num of homozygotes: 0

African
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allele frequency: 4.430745521094201e-3
allele num: 10382
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South Asian
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Other
type: Population
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Latino
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allele frequency: 3.5056967572305e-4
allele num: 11410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.752541184717841e-4
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6560
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South Asian
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allele num: 16482
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66442
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10366
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East Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

DP
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SIO_000300: 1.670222e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66154
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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Latino
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allele count: 2
allele frequency: 1.763046544428773e-4
allele num: 11344
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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South Asian
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allele frequency: 0.0e0
allele num: 16440
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.678e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.1741e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 1.11358574610245e-3
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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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 (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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Other
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 64982
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Latino
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.531341e6

GenotypeQuality
all individuals: 1535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.91426313709996e-4
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.963786303334529e-5
allele num: 11156
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: 64902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.225039813793948e-4
allele num: 16326
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 1.523047e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

GenotypeQuality
all individuals: 974
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4386
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
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: 2
allele frequency: 3.081569135003544e-5
allele num: 64902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 1.523047e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 1.39e1