19-51647735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647735
    reference: chr 19
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1676C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-116C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-434C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.506C>T
  hgvsp: ENSP00000323328.6:p.Ser169Phe
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1676C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser169Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-51647745-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647745
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1686G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-106G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-424G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1686G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.516G>C
  hgvsp: ENSP00000323328.6:p.Trp172Cys
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 10544
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 4996
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp172Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-51647758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647758
    reference: chr 19
allele count: 5
allele frequency: 4.123847384655988e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-93G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-411G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.529G>A
  hgvsp: ENSP00000323328.6:p.Gly177Arg
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1699G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1699G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly177Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-51647762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647762
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647762
    reference: chr 19
allele count: 6
allele frequency: 4.948535233570863e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-89C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1703C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1703C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.533C>T
  hgvsp: ENSP00000323328.6:p.Thr178Met
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-407C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr178Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-51647763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647763
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647763
    reference: chr 19
allele count: 6
allele frequency: 4.948616861587186e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-88G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1704G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-406G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.534G>A
  hgvsp: ENST00000317643.6:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1704G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr178Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-51647764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647764
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647764
    reference: chr 19
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.535C>T
  hgvsp: ENSP00000323328.6:p.Pro179Ser
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-87C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1705C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-405C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1705C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10530
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro179Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-51647765-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647765
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647765
    reference: chr 19
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-404C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1706C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.536C>A
  hgvsp: ENSP00000323328.6:p.Pro179His
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-86C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1706C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro179His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-51647769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647769
    reference: chr 19
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1710T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.540T>C
  hgvsp: ENST00000317643.6:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1710T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-82T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-400T>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro180Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-51647770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647770
    reference: chr 19
allele count: 517
allele frequency: 4.263987859593561e-3
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1711A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.541A>G
  hgvsp: ENSP00000323328.6:p.Met181Val
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1711A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-81A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-399A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 17364
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10579
  bin: 9.75e1
  variant carriers: 502
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met181Val
num of homozygotes: 12
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-51647770-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647770
    reference: chr 19
allele count: 4
allele frequency: 3.299023489047242e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1711A>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-81A>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-399A>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.541A>T
  hgvsp: ENSP00000323328.6:p.Met181Leu
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1711A>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10579
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met181Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/19-51647802-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647802
    reference: chr 19
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-49C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1743C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1743C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.573C>A
  hgvsp: ENST00000317643.6:c.573C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-367C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro191Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-51647802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647802
    reference: chr 19
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1743C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1743C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-49C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.573C>T
  hgvsp: ENST00000317643.6:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-367C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro191Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-51647805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647805
    reference: chr 19
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1746G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-364G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-46G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.576G>A
  hgvsp: ENST00000317643.6:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1746G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu192Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

19-51647821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647821
    reference: chr 19
allele count: 34
allele frequency: 2.804308737896108e-4
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1762C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-30C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.592C>T
  hgvsp: ENSP00000323328.6:p.Arg198Cys
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1762C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-348C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10160
  bin: 9.75e1
  variant carriers: 34
hgvs: p.Arg198Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-51647822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647822
    reference: chr 19
allele count: 19
allele frequency: 1.567268827847892e-4
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1763G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1763G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-347G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.593G>A
  hgvsp: ENSP00000323328.6:p.Arg198His
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-29G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg198His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-51647823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647823
    reference: chr 19
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-28C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1764C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.594C>G
  hgvsp: ENST00000317643.6:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1764C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-346C>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg198Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-51647837-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647837
    reference: chr 19
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-332C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1778C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-14C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1778C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.608C>A
  hgvsp: ENSP00000323328.6:p.Thr203Asn
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr203Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-51647844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647844
    reference: chr 19
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-7C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-325C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1785C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1785C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.615C>T
  hgvsp: ENST00000317643.6:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 8.25e1
  variant carriers: 0
hgvs: c.434-7C>T
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-51647847-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647847
    reference: chr 19
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-322A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1788A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.618A>C
  hgvsp: ENST00000317643.6:c.618A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.434-4A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1788A>C
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: c.434-4A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-51647853-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647854
    reference: chr 19
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1794_433+1795insA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.624_625insA
  hgvsp: ENSP00000323328.6:p.Gln209ThrfsTer71
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.436_437insA
  hgvsp: ENSP00000469626.1:p.Pro146HisfsTer12
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1794_433+1795insA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-316_434-315insA
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23492
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln209ThrfsTer71
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-51647854-C-CAGTTGTAATGCCTTCTCTTTCATTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647881
    reference: chr 19
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: CAGTTGTAATGCCTTCTCTTTCATTTCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10106
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-51647859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647859
    reference: chr 19
allele count: 25
allele frequency: 2.063114808212847e-4
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.442C>G
  hgvsp: ENSP00000469626.1:p.Pro148Ala
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-310C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1800C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.630C>G
  hgvsp: ENSP00000323328.6:p.His210Gln
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1800C>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His210Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-51647862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647862
    reference: chr 19
allele count: 59
allele frequency: 4.870880390991348e-4
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1803C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.445C>T
  hgvsp: ENSP00000469626.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.633C>T
  hgvsp: ENST00000317643.6:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1803C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-307C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17209
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10092
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 8350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg149Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-51647866-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647866
    reference: chr 19
allele count: 58
allele frequency: 4.863731656184487e-4
allele num: 119250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-303A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.637A>C
  hgvsp: ENSP00000323328.6:p.Thr213Pro
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1807A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1807A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.449A>C
  hgvsp: ENSP00000469626.1:p.His150Pro
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23044
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9216
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8223
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.25e1
  variant carriers: 2
hgvs: p.Thr213Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-51647868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647868
    reference: chr 19
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.639C>T
  hgvsp: ENST00000317643.6:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-301C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1809C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.451C>T
  hgvsp: ENSP00000469626.1:p.Gln151Ter
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1809C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln151Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-51647877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647877
    reference: chr 19
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-292C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1818C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1818C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.648C>G
  hgvsp: ENST00000317643.6:c.648C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.460C>G
  hgvsp: ENSP00000469626.1:p.Leu154Val
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24345
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu154Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

19-51647877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647877
    reference: chr 19
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.648C>T
  hgvsp: ENST00000317643.6:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1818C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1818C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.460C>T
  hgvsp: ENST00000601682.1:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-292C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24345
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2024
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genotype quality: GenotypeQuality
  all individuals: 3844
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr216Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-51647886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647886
    reference: chr 19
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-283G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1827G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1827G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.469G>C
  hgvsp: ENSP00000469626.1:p.Asp157His
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.657G>C
  hgvsp: ENST00000317643.6:c.657G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp157His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-51647893-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647893
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647893
    reference: chr 19
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1834C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.664C>G
  hgvsp: ENSP00000323328.6:p.Pro222Ala
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1834C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-276C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.476C>G
  hgvsp: ENSP00000469626.1:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro222Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

19-51647894-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647894
    reference: chr 19
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.665C>G
  hgvsp: ENSP00000323328.6:p.Pro222Arg
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-275C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.477C>G
  hgvsp: ENST00000601682.1:c.477C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1835C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1835C>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro222Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-51647901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647901
    reference: chr 19
allele count: 4
allele frequency: 3.305348053149996e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.672C>T
  hgvsp: ENST00000317643.6:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.484C>T
  hgvsp: ENSP00000469626.1:p.Arg162Trp
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1842C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-268C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1842C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg162Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-51647902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647902
    reference: chr 19
allele count: 6
allele frequency: 4.958595725690485e-5
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1843G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1843G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.485G>A
  hgvsp: ENSP00000469626.1:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-267G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.673G>A
  hgvsp: ENSP00000323328.6:p.Gly225Ser
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9344
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly225Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

19-51647905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647905
    reference: chr 19
allele count: 4
allele frequency: 3.306659612459494e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.676G>A
  hgvsp: ENSP00000323328.6:p.Val226Met
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1846G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1846G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.488G>A
  hgvsp: ENSP00000469626.1:p.Arg163His
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-264G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val226Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-51647912-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647912
    reference: chr 19
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.683C>A
  hgvsp: ENSP00000323328.6:p.Thr228Lys
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1853C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.495C>A
  hgvsp: ENSP00000469626.1:p.His165Gln
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-257C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1853C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr228Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-51647912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647912
    reference: chr 19
allele count: 2
allele frequency: 1.654779831543413e-5
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.683C>T
  hgvsp: ENSP00000323328.6:p.Thr228Met
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1853C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.495C>T
  hgvsp: ENST00000601682.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1853C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-257C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr228Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

19-51647913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647913
    reference: chr 19
allele count: 2
allele frequency: 1.654889370645572e-5
allele num: 120854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.684G>A
  hgvsp: ENST00000317643.6:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1854G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1854G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-256G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.496G>A
  hgvsp: ENSP00000469626.1:p.Glu166Lys
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9328
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu166Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-51647913-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647913
    reference: chr 19
allele count: 7
allele frequency: 5.792112797259504e-5
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.684G>C
  hgvsp: ENST00000317643.6:c.684G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.496G>C
  hgvsp: ENSP00000469626.1:p.Glu166Gln
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-256G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1854G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1854G>C
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu166Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-51647919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647919
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647919
    reference: chr 19
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.502G>A
  hgvsp: ENSP00000469626.1:p.Asp168Asn
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1860G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1860G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.690G>A
  hgvsp: ENST00000317643.6:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-250G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp168Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-51647923-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647923
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647923
    reference: chr 19
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1864A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1864A>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.506A>C
  hgvsp: ENSP00000469626.1:p.His169Pro
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.694A>C
  hgvsp: ENSP00000323328.6:p.Ile232Leu
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-246A>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile232Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-51647925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647925
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647925
    reference: chr 19
allele count: 3
allele frequency: 2.488346245085516e-5
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-244C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.696C>G
  hgvsp: ENSP00000323328.6:p.Ile232Met
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1866C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.508C>G
  hgvsp: ENSP00000469626.1:p.Pro170Ala
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1866C>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile232Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-51647933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647933
    reference: chr 19
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1874A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.516A>G
  hgvsp: ENST00000601682.1:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-236A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.704A>G
  hgvsp: ENSP00000323328.6:p.Asn235Ser
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1874A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn235Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-51647949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647949
    reference: chr 19
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+8C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1890C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+8C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-220C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1890C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: c.712+8C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-51647956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647956
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647956
    reference: chr 19
allele count: 1
allele frequency: 8.410994852471151e-6
allele num: 118892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+15A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1897A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1897A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+15A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-213A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3992
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9285
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1986
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genotype quality: GenotypeQuality
  all individuals: 256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-51647958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647958
    reference: chr 19
allele count: 3
allele frequency: 2.525932911221878e-5
allele num: 118768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1899G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+17G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+17G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-211G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1899G>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15661
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3988
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9281
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-51647960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647960
    reference: chr 19
allele count: 3
allele frequency: 2.53070589823188e-5
allele num: 118544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1901C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+19C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1901C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+19C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-209C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7625
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-51647961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647961
    reference: chr 19
allele count: 11
allele frequency: 9.279411516593275e-5
allele num: 118542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+20G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1902G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1902G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-208G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+20G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18479
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-51647966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647966
    reference: chr 19
allele count: 1
allele frequency: 8.46123906384851e-6
allele num: 118186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1907G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-203G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1907G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+25G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+25G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-51647969-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647969
    reference: chr 19
allele count: 1
allele frequency: 8.475725522104692e-6
allele num: 117984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+28C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1910C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1910C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+28C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-200C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-51647970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647970
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647970
    reference: chr 19
allele count: 2
allele frequency: 1.695202576707917e-5
allele num: 117980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1911C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-199C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1911C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+29C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+29C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-51647976-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647975
    reference: chr 19
allele count: 1
allele frequency: 8.501377223110144e-6
allele num: 117628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1918delA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+36delA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+36delA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1918delA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-192delA
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: GA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-51647977-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647978
    reference: chr 19
allele count: 1
allele frequency: 8.577359202648689e-6
allele num: 116586
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+43dupG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+43dupG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1925dupG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1925dupG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-185dupG
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-51647977-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647976
    reference: chr 19
allele count: 1
allele frequency: 8.577359202648689e-6
allele num: 116586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+43delG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+43delG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1925delG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1925delG
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-185delG
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

19-51647978-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647978
    reference: chr 19
allele count: 1
allele frequency: 8.579566903462713e-6
allele num: 116556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+37G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-191G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1919G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+37G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1919G>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

19-51647979-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647979
    reference: chr 19
allele count: 1
allele frequency: 8.571183680466272e-6
allele num: 116670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1920G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1920G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-190G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+38G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+38G>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-51647979-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647979
    reference: chr 19
allele count: 2
allele frequency: 1.714236736093254e-5
allele num: 116670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+38G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-190G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+38G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1920G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1920G>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9170
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

19-51647980-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647980
    reference: chr 19
allele count: 2
allele frequency: 1.707154685286034e-5
allele num: 117154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+39G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-189G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1921G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1921G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+39G>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

19-51647981-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647981
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647981
    reference: chr 19
allele count: 1
allele frequency: 8.537813978109045e-6
allele num: 117126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-188G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1922G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1922G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+40G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+40G>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-51647984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647984
    reference: chr 19
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1925G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+43G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1925G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+43G>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-185G>C
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-51647986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647986
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647986
    reference: chr 19
allele count: 6
allele frequency: 5.148977069888782e-5
allele num: 116528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-183C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+45C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1927C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1927C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+45C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-51647987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51647987
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51647987
    reference: chr 19
allele count: 593
allele frequency: 5.094064083841594e-3
allele num: 116410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+1928G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.712+46G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+1928G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.524+46G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-182G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9633
  bin: 9.75e1
  variant carriers: 569
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 12
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-51648110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648110
    reference: chr 19
allele count: 4
allele frequency: 3.303055326176714e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-36A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-59A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2051A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2051A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-59A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-51648113-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648113
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648113
    reference: chr 19
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2054G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-56G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-33G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2054G>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-56G>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-51648116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648116
    reference: chr 19
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-30C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2057C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-53C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2057C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-53C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
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genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
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genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50722
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-51648117-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648117
    reference: chr 19
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-52C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-29C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2058C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-52C>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2058C>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-51648124-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648124
    reference: chr 19
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2065C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-45C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2065C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-22C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-45C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-51648129-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648129
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-17C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-40C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-40C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2070C>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2070C>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

19-51648140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648140
    reference: chr 19
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-6A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2081A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-29A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-29A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2081A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 50734
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.525-6A>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-51648142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648142
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2083G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.525-4G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-27G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2083G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-27G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
hgvs: c.525-4G>A
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-51648151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648151
    reference: chr 19
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-18C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-18C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2092C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.530C>T
  hgvsp: ENSP00000469626.1:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2092C>T
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro177Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-51648155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648155
    reference: chr 19
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.713-14T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2096T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.434-14T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2096T>C
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000469626
  ensembl transcript: ENST00000601682
  gene symbol: SIGLEC7
  hgvsc: ENST00000601682.1:c.534T>C
  hgvsp: ENST00000601682.1:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys178Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-51648179-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648178
    reference: chr 19
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.725delA
  hgvsp: ENSP00000323328.6:p.Asn242ThrfsTer2
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.446delA
  hgvsp: ENSP00000306757.6:p.Asn149ThrfsTer2
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2122delA
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2122delA
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn242ThrfsTer2
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: GA
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-51648185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648185
    reference: chr 19
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.450G>A
  hgvsp: ENST00000305628.7:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2126G>A
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.729G>A
  hgvsp: ENST00000317643.6:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2126G>A
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu243Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

19-51648192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648192
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2133A>G
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.736A>G
  hgvsp: ENSP00000323328.6:p.Thr246Ala
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.457A>G
  hgvsp: ENSP00000306757.6:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2133A>G
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr246Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-51648193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51648193
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 51648193
    reference: chr 19
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000437609
  ensembl transcript: ENST00000536156
  gene symbol: SIGLEC7
  hgvsc: ENST00000536156.1:c.433+2134C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000472529
  ensembl transcript: ENST00000600577
  gene symbol: SIGLEC7
  hgvsc: ENST00000600577.1:c.433+2134C>T
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000306757
  ensembl transcript: ENST00000305628
  gene symbol: SIGLEC7
  hgvsc: ENST00000305628.7:c.458C>T
  hgvsp: ENSP00000306757.6:p.Thr153Ile
  variant of: http://identifiers.org/hgnc/10876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168995
  ensembl protein: ENSP00000323328
  ensembl transcript: ENST00000317643
  gene symbol: SIGLEC7
  hgvsc: ENST00000317643.6:c.737C>T
  hgvsp: ENSP00000323328.6:p.Thr246Ile
  variant of: http://identifiers.org/hgnc/10876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr246Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 23519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10545
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
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: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.399e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 2.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.882e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

DP
type: SiteQuality
SIO_000300: 2.084491e6

GenotypeQuality
all individuals: 4079
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 2.084857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.341e0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10545
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.799118533982835e-4
allele num: 8622
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

QD
type: SiteQuality
SIO_000300: 1.275e1

DP
type: SiteQuality
SIO_000300: 2.084949e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10540
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3862
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500585076059888e-5
allele num: 66658
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: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.084899e6

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10534
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2044
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4984
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.651e0

QD
type: SiteQuality
SIO_000300: 1.179e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.084736e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 3862
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.704e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.119e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 2.083502e6

GenotypeQuality
all individuals: 2044
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8551
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 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: 11568
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.083591e6

FS
type: SiteQuality
SIO_000300: 2.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 10528
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 23509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.083177e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.426e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.25e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 18
allele frequency: 1.556016597510373e-3
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 486
allele frequency: 4.68117896359083e-2
allele num: 10382
num of homozygotes: 12

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500195025353296e-4
allele num: 66658
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.457e1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.11755e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000780101413184e-5
allele num: 66658
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.11755e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
all individuals: 2052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.051229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 4.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 23543
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 4.814e0

QD
type: SiteQuality
SIO_000300: 1.155e1

DP
type: SiteQuality
SIO_000300: 2.051229e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

GenotypeQuality
all individuals: 10169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4996
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.955e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.148e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.050747e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 23615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.500990217847926e-4
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

DP
type: SiteQuality
SIO_000300: 2.050131e6

FS
type: SiteQuality
SIO_000300: 1.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10131
bin: 9.75e1
variant carriers: 19

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.737317581653926e-3
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.892960462873674e-4
allele num: 10370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 2.047136e6

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.045007e6

MQ
type: SiteQuality
SIO_000300: 5.836e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 6.349e0

QD
type: SiteQuality
SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

GenotypeQuality
all individuals: 2833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10111
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.927525057825752e-4
allele num: 10376
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.994e0

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 2.043998e6

GenotypeQuality
all individuals: 23529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10110
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.042088e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 3.595e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
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GenotypeQuality
all individuals: 4071
bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23569
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.097e0

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

DP
type: SiteQuality
SIO_000300: 2.041731e6

VQSLOD
type: SiteQuality
SIO_000300: -4.779e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4960
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

VQSLOD
type: SiteQuality
SIO_000300: -3.186e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 2.039741e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 4.589e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.49e-1

DP
type: SiteQuality
SIO_000300: 2.039356e6

VQSLOD
type: SiteQuality
SIO_000300: -2.732e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 4.607e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e0

QD
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: -5.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-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
all individuals: 10111
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variant carriers: 25

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.003273568189327e-4
allele num: 66594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.503e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.037023e6

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

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
all individuals: 95
bin: 4.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.553933056907638e-4
allele num: 66564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 42
allele frequency: 6.350166313879649e-3
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 2.035117e6

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.375e1

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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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.980099502487562e-4
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.727627645946441e-4
allele num: 65572
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.426892950391645e-3
allele num: 6128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.71356e2

QD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.733e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.296e0

VQSLOD
type: SiteQuality
SIO_000300: -1.392e2

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 2.03086e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.256e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.286e0

DP
type: SiteQuality
SIO_000300: 2.003525e6

QD
type: SiteQuality
SIO_000300: 1.274e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.796999999999999e-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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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

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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MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
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QD
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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variant carriers: 2

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.396e0

FS
type: SiteQuality
SIO_000300: 7.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.003382e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9356
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

African
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: 8644
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 1.0677e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.002376e6

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -4.391e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 9.954000000000001e0

DP
type: SiteQuality
SIO_000300: 2.001975e6

GenotypeQuality
all individuals: 3836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9356
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4059
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.301e0

MQ
type: SiteQuality
SIO_000300: 5.679e1

VQSLOD
type: SiteQuality
SIO_000300: -3.962e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 6.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.001493e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

GenotypeQuality
all individuals: 2025
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9350
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.308e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 2.000502e6

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033980582524272e-4
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 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: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 2.000361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 3.718e0

QD
type: SiteQuality
SIO_000300: 1.513e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9339
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 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: 10314
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017209218364522e-5
allele num: 66476
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: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.671e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -2.843e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 1.998704e6

GenotypeQuality
all individuals: 8447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.995351e6

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 6.693e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: -5.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 8447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9329
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010778587342687e-5
allele num: 66428
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.693e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 1.995351e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -5.67e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.221e1

GenotypeQuality
all individuals: 4933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

DP
type: SiteQuality
SIO_000300: 1.995135e6

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9328
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

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

GenotypeQuality
all individuals: 617
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 10298
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053804233282149e-4
allele num: 66426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.995135e6

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4934
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9318
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 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: 10290
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.209e0

DP
type: SiteQuality
SIO_000300: 1.9916e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 10264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.986633e6

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 1.986767e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22751
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.023e0

DP
type: SiteQuality
SIO_000300: 1.975315e6

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.139e0

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 1.94572e6

FS
type: SiteQuality
SIO_000300: 1.674e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.824e1

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 1164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 1.2166e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.978e1

VQSLOD
type: SiteQuality
SIO_000300: -4.699e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.922739e6

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.569270135250396e-5
allele num: 65656
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.899e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.916517e6

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9273
bin: 9.75e1
variant carriers: 3

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.307531380753138e-4
allele num: 15296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 2.362e1

DP
type: SiteQuality
SIO_000300: 1.908652e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.274e0

FS
type: SiteQuality
SIO_000300: 2.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeQuality
all individuals: 2762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050361467833938e-5
allele num: 65566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.57516339869281e-4
allele num: 15300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.907201e6

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

DP
type: SiteQuality
SIO_000300: 1.886922e6

GenotypeQuality
all individuals: 16956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.55e1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.879882e6

GenotypeQuality
all individuals: 3499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059320219047328e-5
allele num: 65374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.876505e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.1955e1

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1950
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6901
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.853853e6

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e0

FS
type: SiteQuality
SIO_000300: 4.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeQuality
all individuals: 9154
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
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variant carriers: 0

GenotypeQuality
all individuals: 14165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541782300339192e-5
allele num: 64860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.444e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 1.846737e6

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 3316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6570
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.846737e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.754e0

VQSLOD
type: SiteQuality
SIO_000300: -7.444e-1

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
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variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64842
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.011e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.461e1

FS
type: SiteQuality
SIO_000300: 2.029e0

DP
type: SiteQuality
SIO_000300: 1.843362e6

VQSLOD
type: SiteQuality
SIO_000300: -1.297e0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 1.838311e6

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

GenotypeQuality
all individuals: 13891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.838311e6

FS
type: SiteQuality
SIO_000300: 3.944e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9184
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 318
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variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.374003847210772e-4
allele num: 14556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65080
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.719e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

FS
type: SiteQuality
SIO_000300: 2.071e0

VQSLOD
type: SiteQuality
SIO_000300: -1.513e-1

DP
type: SiteQuality
SIO_000300: 1.831903e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535956747457992e-5
allele num: 65106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.762e0

QD
type: SiteQuality
SIO_000300: 1.078e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 1.828777e6

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
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GenotypeQuality
all individuals: 2165
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539266693347289e-5
allele num: 64966
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 1.814142e6

MQRankSum
type: SiteQuality
SIO_000300: -1.275e0

QD
type: SiteQuality
SIO_000300: 1.673e1

FS
type: SiteQuality
SIO_000300: 1.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.116e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6149
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variant carriers: 0

GenotypeQuality
all individuals: 9178
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.490401396160559e-4
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.331545814875262e-4
allele num: 8578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.810467e6

FS
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2670
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1913
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variant carriers: 3

GenotypeQuality
all individuals: 2696
bin: 3.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.850481125092524e-4
allele num: 64848
num of homozygotes: 0

Latino
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allele count: 34
allele frequency: 2.961672473867596e-3
allele num: 11480
num of homozygotes: 0

African
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allele count: 546
allele frequency: 5.478627332931969e-2
allele num: 9966
num of homozygotes: 12

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.072135785007072e-5
allele num: 14140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.806724e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
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: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.44140625e-4
allele num: 16384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 4.224278e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 672
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.202e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

DP
type: SiteQuality
SIO_000300: 4.226709e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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South Asian
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allele num: 16408
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East Asian
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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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European (Non-Finnish)
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allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

African
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Other
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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FS
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66590
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

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

Other
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.1747e1

QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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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: 10404
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

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

African
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allele frequency: 0.0e0
allele num: 10404
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQ
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6614
num of homozygotes: 0

Other
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South Asian
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allele frequency: 6.05913717886573e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66702
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East Asian
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African
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Latino
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 8.991727610598249e-5
allele num: 66728
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East Asian
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European (Finnish)
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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FS
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DP
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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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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Other
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East Asian
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Latino
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allele num: 11578
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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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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num of homozygotes: 0

African
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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