14-65270454-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270454
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270454
    reference: chr 14
allele count: 185
allele frequency: 1.638473120184217e-3
allele num: 112910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.345T>C
  hgvsp: ENST00000389720.3:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.345T>C
  hgvsp: ENST00000389722.3:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.345T>C
  hgvsp: ENST00000556626.1:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.345T>C
  hgvsp: ENST00000389721.5:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.345T>C
  hgvsp: ENST00000542895.1:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25852
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn115Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-65270466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270466
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270466
    reference: chr 14
allele count: 1
allele frequency: 9.556757583287142e-6
allele num: 104638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.333C>T
  hgvsp: ENST00000556626.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.333C>T
  hgvsp: ENST00000389722.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.333C>T
  hgvsp: ENST00000542895.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.333C>T
  hgvsp: ENST00000389721.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.333C>T
  hgvsp: ENST00000389720.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20164
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His111His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-65270469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270469
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270469
    reference: chr 14
allele count: 2
allele frequency: 1.946206842863259e-5
allele num: 102764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.330C>T
  hgvsp: ENST00000542895.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.330C>T
  hgvsp: ENST00000389721.5:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.330C>T
  hgvsp: ENST00000389720.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.330C>T
  hgvsp: ENST00000389722.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.330C>T
  hgvsp: ENST00000556626.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16921
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 178
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genotype quality: GenotypeQuality
  all individuals: 609
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genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile110Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-65270472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270472
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270472
    reference: chr 14
allele count: 1
allele frequency: 9.922800611244517e-6
allele num: 100778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.327C>T
  hgvsp: ENST00000556626.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.327C>T
  hgvsp: ENST00000389722.3:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.327C>T
  hgvsp: ENST00000389721.5:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.327C>T
  hgvsp: ENST00000389720.3:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.327C>T
  hgvsp: ENST00000542895.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg109Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-65270473-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270473
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270473
    reference: chr 14
allele count: 1
allele frequency: 1.010693133350852e-5
allele num: 98942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.326G>T
  hgvsp: ENSP00000451752.1:p.Arg109Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.326G>T
  hgvsp: ENSP00000374370.3:p.Arg109Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.326G>T
  hgvsp: ENSP00000443882.1:p.Arg109Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.326G>T
  hgvsp: ENSP00000374371.5:p.Arg109Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.326G>T
  hgvsp: ENSP00000374372.3:p.Arg109Leu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg109Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

14-65270473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270473
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270473
    reference: chr 14
allele count: 1
allele frequency: 1.010693133350852e-5
allele num: 98942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.326G>A
  hgvsp: ENSP00000451752.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.326G>A
  hgvsp: ENSP00000443882.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.326G>A
  hgvsp: ENSP00000374372.3:p.Arg109His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.326G>A
  hgvsp: ENSP00000374371.5:p.Arg109His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.326G>A
  hgvsp: ENSP00000374370.3:p.Arg109His
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg109His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-65270474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270474
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270474
    reference: chr 14
allele count: 3
allele frequency: 3.053062221408072e-5
allele num: 98262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.325C>T
  hgvsp: ENSP00000443882.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.325C>T
  hgvsp: ENSP00000451752.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.325C>T
  hgvsp: ENSP00000374372.3:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.325C>T
  hgvsp: ENSP00000374370.3:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.325C>T
  hgvsp: ENSP00000374371.5:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 272
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg109Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/14-65270478-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270478
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270478
    reference: chr 14
allele count: 2
allele frequency: 2.100354959988238e-5
allele num: 95222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.321G>T
  hgvsp: ENSP00000374372.3:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.321G>T
  hgvsp: ENSP00000374370.3:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.321G>T
  hgvsp: ENSP00000374371.5:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.321G>T
  hgvsp: ENSP00000451752.1:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.321G>T
  hgvsp: ENSP00000443882.1:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys107Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

14-65270479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270479
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270479
    reference: chr 14
allele count: 2
allele frequency: 2.130061558779049e-5
allele num: 93894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.320A>G
  hgvsp: ENSP00000443882.1:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.320A>G
  hgvsp: ENSP00000374372.3:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.320A>G
  hgvsp: ENSP00000374370.3:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.320A>G
  hgvsp: ENSP00000451752.1:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.320A>G
  hgvsp: ENSP00000374371.5:p.Lys107Arg
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys107Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

14-65270488-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270488
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270488
    reference: chr 14
allele count: 1
allele frequency: 1.166044776119403e-5
allele num: 85760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.311C>G
  hgvsp: ENSP00000443882.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.311C>G
  hgvsp: ENSP00000374371.5:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.311C>G
  hgvsp: ENSP00000451752.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.311C>G
  hgvsp: ENSP00000374372.3:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.311C>G
  hgvsp: ENSP00000374370.3:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr104Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-65270490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270490
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270490
    reference: chr 14
allele count: 1
allele frequency: 1.176719775952555e-5
allele num: 84982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.309C>T
  hgvsp: ENST00000389720.3:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.309C>T
  hgvsp: ENST00000389722.3:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.309C>T
  hgvsp: ENST00000556626.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.309C>T
  hgvsp: ENST00000542895.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.309C>T
  hgvsp: ENST00000389721.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro103Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-65270503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270503
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270503
    reference: chr 14
allele count: 1
allele frequency: 1.351789769655023e-5
allele num: 73976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-5C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-5C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-5C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-5C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-5C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
hgvs: c.301-5C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

14-65270505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270505
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270505
    reference: chr 14
allele count: 1
allele frequency: 1.40331181588549e-5
allele num: 71260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-7C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-7C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-7C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-7C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-7C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
hgvs: c.301-7C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

14-65270511-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270511
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270510
    reference: chr 14
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-14delC
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-14delC
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-14delC
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-14delC
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-14delC
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20835
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: AG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-65270516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270516
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270516
    reference: chr 14
allele count: 108
allele frequency: 1.811108129863161e-3
allele num: 59632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-18G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-18G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-18G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-18G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-18G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21773
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 2
num of homozygotes: 1
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-65270517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270517
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270517
    reference: chr 14
allele count: 2
allele frequency: 3.352891869237217e-5
allele num: 59650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-19G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-19G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-19G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-19G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-19G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-65270519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270519
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270519
    reference: chr 14
allele count: 1
allele frequency: 1.732801940738174e-5
allele num: 57710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-21G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-21G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-21G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-21G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-21G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-65270521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270521
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270521
    reference: chr 14
allele count: 1
allele frequency: 1.808514486201034e-5
allele num: 55294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-23C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

14-65270521-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270521
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270521
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 55294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-23C>G
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22433
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-65270523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270523
    reference: chr 14
allele count: 1
allele frequency: 1.93963845139266e-5
allele num: 51556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-25C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-25C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-25C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-25C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-25C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15043
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-65270527-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270527
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270527
    reference: chr 14
allele count: 1
allele frequency: 1.992587574223887e-5
allele num: 50186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-29T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-29T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-29T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-29T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-29T>C
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

14-65270532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270532
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270532
    reference: chr 14
allele count: 1
allele frequency: 2.142979598834219e-5
allele num: 46664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-34C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-65270537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270537
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270537
    reference: chr 14
allele count: 1
allele frequency: 2.30467849734962e-5
allele num: 43390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-39A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-39A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-39A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-39A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-39A>G
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

14-65270540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270540
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270540
    reference: chr 14
allele count: 101
allele frequency: 2.393024688432924e-3
allele num: 42206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-42T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-42T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-42T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-42T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-42T>C
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 1.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25368
  bin: 7.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18691
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.75e1
  variant carriers: 115
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

14-65270545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65270545
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65270545
    reference: chr 14
allele count: 3
allele frequency: 7.560864962951762e-5
allele num: 39678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.301-47G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.301-47G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.301-47G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.301-47G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.301-47G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26233
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-65271614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271614
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271614
    reference: chr 14
allele count: 2
allele frequency: 1.654451301225948e-5
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+43C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+43C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+43C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+43C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+43C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

14-65271618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271618
    reference: chr 14
allele count: 22
allele frequency: 1.819866322546489e-4
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+39G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+39G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+39G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+39G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+39G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4479
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39738
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
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: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-65271619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271619
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271619
    reference: chr 14
allele count: 6
allele frequency: 4.961219798574476e-5
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+38C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+38C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+38C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+38C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+38C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39736
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6873
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

14-65271619-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271619
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271619
    reference: chr 14
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+38C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+38C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+38C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+38C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+38C>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

14-65271623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271623
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271623
    reference: chr 14
allele count: 3
allele frequency: 2.480281760007937e-5
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+34C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+34C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/14-65271624-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271624
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271624
    reference: chr 14
allele count: 3
allele frequency: 2.480076717039781e-5
allele num: 120964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+33G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+33G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+33G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+33G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+33G>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39739
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

14-65271633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271633
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271633
    reference: chr 14
allele count: 438
allele frequency: 3.618339529120198e-3
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+24G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+24G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+24G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+24G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+24G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 9.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39779
  bin: 9.75e1
  variant carriers: 435
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

14-65271634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271634
    reference: chr 14
allele count: 29773
allele frequency: 2.457572555882062e-1
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+23C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.25e1
  variant carriers: 1250
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.25e1
  variant carriers: 326
genotype depth: GenotypeDepth
  all individuals: 20776
  bin: 9.75e1
  variant carriers: 16241
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 1023
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 566
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 497
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 8.75e1
  variant carriers: 1211
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 735
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 780
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 918
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 4.75e1
  variant carriers: 347
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 9
num of homozygotes: 3893
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

14-65271634-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271634
    reference: chr 14
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+23C>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+23C>G
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-65271650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271650
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271650
    reference: chr 14
allele count: 44791
allele frequency: 3.693189313984169e-1
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.300+7T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.300+7T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.300+7T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.300+7T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.300+7T>C
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 554
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 2.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 6.25e1
  variant carriers: 725
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 617
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 902
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.25e1
  variant carriers: 1022
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.25e1
  variant carriers: 1731
genotype depth: GenotypeDepth
  all individuals: 24040
  bin: 9.75e1
  variant carriers: 23644
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 8.25e1
  variant carriers: 1406
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 1553
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 1207
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 8.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 6231
  bin: 6.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 42883
  bin: 9.75e1
  variant carriers: 35420
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 31
hgvs: c.300+7T>C
num of homozygotes: 8967
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-65271663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271663
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271663
    reference: chr 14
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.294G>C
  hgvsp: ENSP00000374370.3:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.294G>C
  hgvsp: ENSP00000443882.1:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.294G>C
  hgvsp: ENSP00000374372.3:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.294G>C
  hgvsp: ENSP00000374371.5:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.294G>C
  hgvsp: ENSP00000451752.1:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu98Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-65271698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271698
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271698
    reference: chr 14
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.259A>G
  hgvsp: ENSP00000374370.3:p.Met87Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.259A>G
  hgvsp: ENSP00000374372.3:p.Met87Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.259A>G
  hgvsp: ENSP00000374371.5:p.Met87Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.259A>G
  hgvsp: ENSP00000451752.1:p.Met87Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.259A>G
  hgvsp: ENSP00000443882.1:p.Met87Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met87Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

14-65271700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271700
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271700
    reference: chr 14
allele count: 6
allele frequency: 4.943479550472926e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.257G>A
  hgvsp: ENSP00000374372.3:p.Arg86His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.257G>A
  hgvsp: ENSP00000374371.5:p.Arg86His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.257G>A
  hgvsp: ENSP00000443882.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.257G>A
  hgvsp: ENSP00000451752.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.257G>A
  hgvsp: ENSP00000374370.3:p.Arg86His
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20493
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14284
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg86His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-65271709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271709
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271709
    reference: chr 14
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.248G>A
  hgvsp: ENSP00000374371.5:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.248G>A
  hgvsp: ENSP00000374370.3:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.248G>A
  hgvsp: ENSP00000374372.3:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.248G>A
  hgvsp: ENSP00000443882.1:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.248G>A
  hgvsp: ENSP00000451752.1:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg83Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

14-65271710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271710
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271710
    reference: chr 14
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.247C>T
  hgvsp: ENSP00000374371.5:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.247C>T
  hgvsp: ENSP00000374370.3:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.247C>T
  hgvsp: ENSP00000374372.3:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.247C>T
  hgvsp: ENSP00000451752.1:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.247C>T
  hgvsp: ENSP00000443882.1:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20478
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg83Trp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-65271717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271717
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271717
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.240G>A
  hgvsp: ENST00000389720.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.240G>A
  hgvsp: ENST00000389722.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.240G>A
  hgvsp: ENST00000556626.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.240G>A
  hgvsp: ENST00000389721.5:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.240G>A
  hgvsp: ENST00000542895.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys80Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

14-65271719-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271719
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271719
    reference: chr 14
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.238A>G
  hgvsp: ENSP00000374370.3:p.Lys80Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.238A>G
  hgvsp: ENSP00000451752.1:p.Lys80Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.238A>G
  hgvsp: ENSP00000374372.3:p.Lys80Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.238A>G
  hgvsp: ENSP00000443882.1:p.Lys80Glu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.238A>G
  hgvsp: ENSP00000374371.5:p.Lys80Glu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys80Glu
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: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-65271720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271720
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271720
    reference: chr 14
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.237C>T
  hgvsp: ENST00000389721.5:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.237C>T
  hgvsp: ENST00000389722.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.237C>T
  hgvsp: ENST00000556626.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.237C>T
  hgvsp: ENST00000389720.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.237C>T
  hgvsp: ENST00000542895.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14347
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr79Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-65271728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271728
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271728
    reference: chr 14
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.229G>A
  hgvsp: ENSP00000451752.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.229G>A
  hgvsp: ENSP00000374371.5:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.229G>A
  hgvsp: ENSP00000374372.3:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.229G>A
  hgvsp: ENSP00000443882.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.229G>A
  hgvsp: ENSP00000374370.3:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp77Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

14-65271729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271729
    reference: chr 14
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.228C>T
  hgvsp: ENST00000389720.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.228C>T
  hgvsp: ENST00000389722.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.228C>T
  hgvsp: ENST00000389721.5:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.228C>T
  hgvsp: ENST00000556626.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.228C>T
  hgvsp: ENST00000542895.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr76Thr
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: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

14-65271734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271734
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271734
    reference: chr 14
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.223A>G
  hgvsp: ENSP00000374371.5:p.Ile75Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.223A>G
  hgvsp: ENSP00000374370.3:p.Ile75Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.223A>G
  hgvsp: ENSP00000443882.1:p.Ile75Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.223A>G
  hgvsp: ENSP00000451752.1:p.Ile75Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.223A>G
  hgvsp: ENSP00000374372.3:p.Ile75Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile75Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

14-65271735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271735
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271735
    reference: chr 14
allele count: 16
allele frequency: 1.318304660206974e-4
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.222C>T
  hgvsp: ENST00000556626.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.222C>T
  hgvsp: ENST00000542895.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.222C>T
  hgvsp: ENST00000389722.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.222C>T
  hgvsp: ENST00000389720.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.222C>T
  hgvsp: ENST00000389721.5:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg74Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

14-65271736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271736
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271736
    reference: chr 14
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.221G>A
  hgvsp: ENSP00000443882.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.221G>A
  hgvsp: ENSP00000451752.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.221G>A
  hgvsp: ENSP00000374372.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.221G>A
  hgvsp: ENSP00000374370.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.221G>A
  hgvsp: ENSP00000374371.5:p.Arg74His
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg74His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-65271737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271737
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271737
    reference: chr 14
allele count: 28
allele frequency: 2.307185234014502e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.220C>T
  hgvsp: ENSP00000443882.1:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.220C>T
  hgvsp: ENSP00000374372.3:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.220C>T
  hgvsp: ENSP00000374370.3:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.220C>T
  hgvsp: ENSP00000451752.1:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.220C>T
  hgvsp: ENSP00000374371.5:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20457
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg74Cys
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

14-65271743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271743
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271743
    reference: chr 14
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.214T>C
  hgvsp: ENSP00000374371.5:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.214T>C
  hgvsp: ENSP00000374372.3:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.214T>C
  hgvsp: ENSP00000374370.3:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.214T>C
  hgvsp: ENSP00000451752.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.214T>C
  hgvsp: ENSP00000443882.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20439
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser72Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-65271746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271746
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271746
    reference: chr 14
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.211G>A
  hgvsp: ENSP00000374370.3:p.Val71Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.211G>A
  hgvsp: ENSP00000374371.5:p.Val71Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.211G>A
  hgvsp: ENSP00000451752.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.211G>A
  hgvsp: ENSP00000374372.3:p.Val71Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.211G>A
  hgvsp: ENSP00000443882.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20438
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val71Met
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

14-65271751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271751
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271751
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.206C>T
  hgvsp: ENSP00000374370.3:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.206C>T
  hgvsp: ENSP00000374372.3:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.206C>T
  hgvsp: ENSP00000443882.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.206C>T
  hgvsp: ENSP00000374371.5:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.206C>T
  hgvsp: ENSP00000451752.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala69Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-65271753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271753
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271753
    reference: chr 14
allele count: 164
allele frequency: 1.351173213814922e-3
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.204G>A
  hgvsp: ENST00000542895.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.204G>A
  hgvsp: ENST00000389721.5:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.204G>A
  hgvsp: ENST00000389720.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.204G>A
  hgvsp: ENST00000556626.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.204G>A
  hgvsp: ENST00000389722.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu68Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-65271756-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271756
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271756
    reference: chr 14
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.201C>G
  hgvsp: ENSP00000451752.1:p.His67Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.201C>G
  hgvsp: ENSP00000374371.5:p.His67Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.201C>G
  hgvsp: ENSP00000374372.3:p.His67Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.201C>G
  hgvsp: ENSP00000443882.1:p.His67Gln
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.201C>G
  hgvsp: ENSP00000374370.3:p.His67Gln
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His67Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-65271759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271759
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271759
    reference: chr 14
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.198G>A
  hgvsp: ENST00000556626.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.198G>A
  hgvsp: ENST00000389721.5:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.198G>A
  hgvsp: ENST00000389720.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.198G>A
  hgvsp: ENST00000389722.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.198G>A
  hgvsp: ENST00000542895.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  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: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20338
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser66Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

14-65271774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271774
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271774
    reference: chr 14
allele count: 13
allele frequency: 1.071193144363876e-4
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.183G>A
  hgvsp: ENST00000542895.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.183G>A
  hgvsp: ENST00000389720.3:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.183G>A
  hgvsp: ENST00000389721.5:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.183G>A
  hgvsp: ENST00000556626.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.183G>A
  hgvsp: ENST00000389722.3:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr61Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

14-65271775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271775
    reference: chr 14
allele count: 13
allele frequency: 1.071193144363876e-4
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.182C>T
  hgvsp: ENSP00000374371.5:p.Thr61Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.182C>T
  hgvsp: ENSP00000374372.3:p.Thr61Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.182C>T
  hgvsp: ENSP00000451752.1:p.Thr61Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.182C>T
  hgvsp: ENSP00000443882.1:p.Thr61Met
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.182C>T
  hgvsp: ENSP00000374370.3:p.Thr61Met
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20320
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr61Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-65271780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271780
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271780
    reference: chr 14
allele count: 6485
allele frequency: 5.344486566672161e-2
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.177C>T
  hgvsp: ENST00000389722.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.177C>T
  hgvsp: ENST00000389720.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.177C>T
  hgvsp: ENST00000556626.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.177C>T
  hgvsp: ENST00000389721.5:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.177C>T
  hgvsp: ENST00000542895.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.25e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 4.25e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 3.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 1394
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 571
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.25e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 594
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr59Thr
num of homozygotes: 274
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

14-65271806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271806
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271806
    reference: chr 14
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.151G>A
  hgvsp: ENSP00000451752.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.151G>A
  hgvsp: ENSP00000374370.3:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.151G>A
  hgvsp: ENSP00000374372.3:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.151G>A
  hgvsp: ENSP00000374371.5:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.151G>A
  hgvsp: ENSP00000443882.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu51Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

14-65271811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271811
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-3T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-3T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-3T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-3T>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-3T>C
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16214
  bin: 6.25e1
  variant carriers: 0
hgvs: c.149-3T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-65271823-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271823
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271823
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-15C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-15C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-15C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-15C>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-15C>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  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: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/14-65271827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271827
    reference: chr 14
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-19G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-19G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-19G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-19G>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-19G>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

14-65271831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271831
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271831
    reference: chr 14
allele count: 4
allele frequency: 3.298098646130506e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-23C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-23C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-65271839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271839
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271839
    reference: chr 14
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-31G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-31G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-31G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-31G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-31G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-65271852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65271852
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65271852
    reference: chr 14
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.149-44C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.149-44C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.149-44C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.149-44C>T
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.149-44C>T
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

14-65289616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289616
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289616
    reference: chr 14
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+49G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+49G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+49G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+49G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+49G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 34
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genotype quality: GenotypeQuality
  all individuals: 4540
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9039
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-65289617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289617
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289617
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+48G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+48G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+48G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+48G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+48G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-65289618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289618
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+47A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+47A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+47A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+47A>G
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+47A>G
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

14-65289625-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289625
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289625
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+40A>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+40A>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+40A>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+40A>C
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+40A>C
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-65289636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289636
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289636
    reference: chr 14
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+29G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+29G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+29G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+29G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+29G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

14-65289651-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289651
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289650
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+13delG
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+13delG
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+13delG
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+13delG
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+13delG
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-65289655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289655
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289655
    reference: chr 14
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.148+10G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.148+10G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.148+10G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.148+10G>A
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.148+10G>A
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-65289680-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289680
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289680
    reference: chr 14
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.133A>T
  hgvsp: ENSP00000374371.5:p.Ile45Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.133A>T
  hgvsp: ENSP00000374372.3:p.Ile45Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.133A>T
  hgvsp: ENSP00000443882.1:p.Ile45Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.133A>T
  hgvsp: ENSP00000374370.3:p.Ile45Leu
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.133A>T
  hgvsp: ENSP00000451752.1:p.Ile45Leu
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile45Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-65289693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65289693
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 65289693
    reference: chr 14
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000451752
  ensembl transcript: ENST00000556626
  gene symbol: SPTB
  hgvsc: ENST00000556626.1:c.120T>C
  hgvsp: ENST00000556626.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374370
  ensembl transcript: ENST00000389720
  gene symbol: SPTB
  hgvsc: ENST00000389720.3:c.120T>C
  hgvsp: ENST00000389720.3:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000443882
  ensembl transcript: ENST00000542895
  gene symbol: SPTB
  hgvsc: ENST00000542895.1:c.120T>C
  hgvsp: ENST00000542895.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374371
  ensembl transcript: ENST00000389721
  gene symbol: SPTB
  hgvsc: ENST00000389721.5:c.120T>C
  hgvsp: ENST00000389721.5:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070182
  ensembl protein: ENSP00000374372
  ensembl transcript: ENST00000389722
  gene symbol: SPTB
  hgvsc: ENST00000389722.3:c.120T>C
  hgvsp: ENST00000389722.3:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11274
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27347
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe40Phe
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 509
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 9.75e1
variant carriers: 181

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.73370319001387e-4
allele num: 5768
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 82
allele frequency: 1.314271060392358e-3
allele num: 62392
num of homozygotes: 0

African
type: Population
allele count: 80
allele frequency: 8.195041999590248e-3
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.512001512001512e-3
allele num: 10582
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.206361421059382e-4
allele num: 15594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.437e1

FS
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 1.517568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4626
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57774
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.095290251916758e-4
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.636e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.031e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 1.357763e6

GenotypeQuality
all individuals: 27802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.361099768613039e-4
allele num: 14694
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56806
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.320443e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55704
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.886103842445945e-5
allele num: 14522
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.828287260494369e-5
allele num: 54696
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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SIO_000300: 5.811e1

DP
type: SiteQuality
SIO_000300: 1.258403e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8714
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.828287260494369e-5
allele num: 54696
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 1.153934918070621e-4
allele num: 8666
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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
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.679852805887765e-5
allele num: 54350
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8222
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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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
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.80343830823064e-5
allele num: 52584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
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MQRankSum
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: 0

South Asian
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allele frequency: 7.161271841879118e-5
allele num: 13964
num of homozygotes: 0

Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 8074
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.929310078715851e-5
allele num: 51832
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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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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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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African
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South Asian
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Latino
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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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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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.143665513989311e-4
allele num: 6362
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11786
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

MQ
type: SiteQuality
SIO_000300: 6.063e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.33788e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 109

GenotypeQuality
all individuals: 408
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GenotypeQuality
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bin: 9.25e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 99
allele frequency: 1.684819605173588e-2
allele num: 5876
num of homozygotes: 1

Latino
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allele count: 6
allele frequency: 1.480750246791708e-3
allele num: 4052
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 9.342301943198804e-5
allele num: 32112
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3696
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.88508e5

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32162
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.446623093681918e-4
allele num: 3672
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

FS
type: SiteQuality
SIO_000300: 1.1543e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.85443e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.403e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31132
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.112447603426281e-5
allele num: 10974
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 6.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.513e0

DP
type: SiteQuality
SIO_000300: 7.71372e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.359989248034406e-5
allele num: 29762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.54372e5

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

DP
type: SiteQuality
SIO_000300: 7.54372e5

GenotypeQuality
all individuals: 940
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variant carriers: 0

GenotypeQuality
all individuals: 12057
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GenotypeQuality
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 4185
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.617683235655886e-5
allele num: 27642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

DP
type: SiteQuality
SIO_000300: 7.27309e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 430
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.721622627465575e-5
allele num: 26870
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 336
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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

South Asian
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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MQRankSum
type: SiteQuality
SIO_000300: -1.94e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.88238e5

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1181
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

Other
type: Population
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allele num: 374
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.3535045711798e-5
allele num: 22970
num of homozygotes: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 4

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
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allele frequency: 2.73224043715847e-3
allele num: 366
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South Asian
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East Asian
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Latino
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European (Finnish)
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allele frequency: 9.599999999999999e-3
allele num: 1250
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African
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allele frequency: 6.648936170212766e-4
allele num: 4512
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European (Non-Finnish)
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allele count: 54
allele frequency: 2.427184466019417e-3
allele num: 22248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.535e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2087
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GenotypeQuality
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 681
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variant carriers: 0

East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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Other
type: Population
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African
type: Population
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allele frequency: 6.906077348066298e-4
allele num: 4344
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
type: Population
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.43897e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 2506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39737
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6597
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.958863858961802e-4
allele num: 10210
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.048872e6

FS
type: SiteQuality
SIO_000300: 1.431e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.409e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.219e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.446e0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.406087401124846e-4
allele num: 66498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 3.628e0

QD
type: SiteQuality
SIO_000300: 1.141e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 4.050138e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3371
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.017945711966815e-5
allele num: 66534
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: 8610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

FS
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 4.052628e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 4.052628e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39738
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509515076812073e-5
allele num: 66526
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
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: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.054174e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.679e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 3382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508837321149453e-5
allele num: 66536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 8610
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: 4.02e0

DP
type: SiteQuality
SIO_000300: 4.054373e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.645e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.012798173406237e-4
allele num: 66572
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 5.544747081712063e-3
allele num: 10280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 179
allele frequency: 2.077048038988164e-2
allele num: 8618
num of homozygotes: 1

South Asian
type: Population
allele count: 10
allele frequency: 6.062075654704171e-4
allele num: 16496
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 130
allele frequency: 1.123789764868603e-2
allele num: 11568
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

FS
type: SiteQuality
SIO_000300: 1.149e0

DP
type: SiteQuality
SIO_000300: 4.06689e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 42072
bin: 9.75e1
variant carriers: 25640

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 21

GenotypeQuality
all individuals: 3186
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 159
bin: 2.25e1
variant carriers: 5

East Asian
type: Population
allele count: 925
allele frequency: 1.072339438905634e-1
allele num: 8626
num of homozygotes: 65

African
type: Population
allele count: 2748
allele frequency: 2.659183278498161e-1
allele num: 10334
num of homozygotes: 368

European (Finnish)
type: Population
allele count: 1833
allele frequency: 2.773910411622276e-1
allele num: 6608
num of homozygotes: 260

European (Non-Finnish)
type: Population
allele count: 17799
allele frequency: 2.672041073680418e-1
allele num: 66612
num of homozygotes: 2377

South Asian
type: Population
allele count: 4714
allele frequency: 2.857316038307673e-1
allele num: 16498
num of homozygotes: 692

Latino
type: Population
allele count: 1534
allele frequency: 1.326530612244898e-1
allele num: 11564
num of homozygotes: 108

Other
type: Population
allele count: 220
allele frequency: 2.428256070640177e-1
allele num: 906
num of homozygotes: 23

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

DP
type: SiteQuality
SIO_000300: 4.683082e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.442e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 42072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 6608
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.683082e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 963
bin: 8.75e1
variant carriers: 36

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 22

African
type: Population
allele count: 6716
allele frequency: 6.460176991150443e-1
allele num: 10396
num of homozygotes: 2149

South Asian
type: Population
allele count: 7917
allele frequency: 4.797600290873834e-1
allele num: 16502
num of homozygotes: 1942

East Asian
type: Population
allele count: 2774
allele frequency: 3.217350962653677e-1
allele num: 8622
num of homozygotes: 471

European (Non-Finnish)
type: Population
allele count: 21763
allele frequency: 3.264090949995501e-1
allele num: 66674
num of homozygotes: 3554

Latino
type: Population
allele count: 3141
allele frequency: 2.714779602420052e-1
allele num: 11570
num of homozygotes: 430

European (Finnish)
type: Population
allele count: 2156
allele frequency: 3.26271186440678e-1
allele num: 6608
num of homozygotes: 362

Other
type: Population
allele count: 324
allele frequency: 3.568281938325991e-1
allele num: 908
num of homozygotes: 59

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.993459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

GenotypeQuality
all individuals: 20508
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14222
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
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: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 2.455468e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4327
bin: 8.25e1
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GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

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

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.696e0

QD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
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: 11576
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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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
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SIO_000300: 6.6e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.456048e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 2.455667e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

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

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.736e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0013e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.455603e6

VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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European (Non-Finnish)
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allele num: 66720
num of homozygotes: 0

South Asian
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East Asian
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African
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Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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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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Other
type: Population
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Latino
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allele frequency: 7.774706288873532e-4
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 1.049192122066009e-4
allele num: 66718
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South Asian
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European (Finnish)
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MQRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
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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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

DP
type: SiteQuality
SIO_000300: 2.454829e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.377e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 27
allele frequency: 1.63576881134133e-3
allele num: 16506
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
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SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 2.455451e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.453413e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.437e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.011e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.63e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

DP
type: SiteQuality
SIO_000300: 2.452975e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 164

GenotypeQuality
all individuals: 7232
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variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 139
allele frequency: 2.083333333333333e-3
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 1.787e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.454151e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 2.446027e6

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.183e1

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: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
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: 10390
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 8.073e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.660508083140878e-4
allele num: 10392
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.064e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 2.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.44556e6

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.26920281075842e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.212e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3179
allele frequency: 4.76525962345605e-2
allele num: 66712
num of homozygotes: 79

Other
type: Population
allele count: 48
allele frequency: 5.298013245033113e-2
allele num: 906
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Latino
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allele frequency: 2.082613204286208e-2
allele num: 11572
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African
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allele count: 391
allele frequency: 3.762509622786759e-2
allele num: 10392
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South Asian
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allele frequency: 5.822125287774143e-2
allele num: 16506
num of homozygotes: 41

East Asian
type: Population
allele count: 1455
allele frequency: 1.683638046748438e-1
allele num: 8642
num of homozygotes: 142

European (Finnish)
type: Population
allele count: 210
allele frequency: 3.177004538577912e-2
allele num: 6610
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.491892e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.348e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
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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 frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Other
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South Asian
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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South Asian
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Latino
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allele frequency: 2.594706798131811e-4
allele num: 11562
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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QD
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66672
num of homozygotes: 0

South Asian
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FS
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Other
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European (Finnish)
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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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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East Asian
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South Asian
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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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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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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South Asian
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Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.803e1

DP
type: SiteQuality
SIO_000300: 2.821018e6

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -4.286e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.315e0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27346
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.821261e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.623e0

QD
type: SiteQuality
SIO_000300: 1.418e1

MQ
type: SiteQuality
SIO_000300: 6.004e1

GenotypeQuality
all individuals: 5669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4533
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27347
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.308e-1

DP
type: SiteQuality
SIO_000300: 2.821279e6

FS
type: SiteQuality
SIO_000300: 4.955e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27348
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.427e0

VQSLOD
type: SiteQuality
SIO_000300: -2.479e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.821467e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1