8-42407682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407682
    reference: chr 8
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.260-5A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*280-5A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.260-5A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.260-5A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.260-5A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.260-5A>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 6.75e1
  variant carriers: 0
hgvs: c.260-5A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

8-42407683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407683
    reference: chr 8
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*280-4A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.260-4A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.260-4A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.260-4A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.260-4A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.260-4A>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.260-4A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-42407697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407697
    reference: chr 8
allele count: 4
allele frequency: 3.312190517198549e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.270C>T
  hgvsp: ENST00000417410.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.270C>T
  hgvsp: ENST00000416469.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.270C>T
  hgvsp: ENST00000438528.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.270C>T
  hgvsp: ENST00000490331.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.270C>T
  hgvsp: ENST00000414154.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*290C>T
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8882
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr90Tyr
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: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-42407698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407698
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407698
    reference: chr 8
allele count: 14
allele frequency: 1.159093919724467e-4
allele num: 120784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.271G>A
  hgvsp: ENSP00000405694.2:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.271G>A
  hgvsp: ENSP00000391549.2:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.271G>A
  hgvsp: ENSP00000408997.2:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.271G>A
  hgvsp: ENSP00000429586.1:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.271G>A
  hgvsp: ENSP00000390750.2:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8897
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp91Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

8-42407706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407706
    reference: chr 8
allele count: 46
allele frequency: 3.841592757762523e-4
allele num: 119742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*299G>C
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.279G>C
  hgvsp: ENSP00000429586.1:p.Gln93His
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.279G>C
  hgvsp: ENSP00000391549.2:p.Gln93His
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.279G>C
  hgvsp: ENSP00000390750.2:p.Gln93His
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.279G>C
  hgvsp: ENSP00000408997.2:p.Gln93His
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.279G>C
  hgvsp: ENSP00000405694.2:p.Gln93His
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 28415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28145
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Gln93His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/8-42407711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407711
    reference: chr 8
allele count: 3
allele frequency: 2.48184119525472e-5
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.284C>A
  hgvsp: ENSP00000408997.2:p.Pro95Gln
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*304C>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.284C>A
  hgvsp: ENSP00000429586.1:p.Pro95Gln
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.284C>A
  hgvsp: ENSP00000391549.2:p.Pro95Gln
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.284C>A
  hgvsp: ENSP00000405694.2:p.Pro95Gln
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.284C>A
  hgvsp: ENSP00000390750.2:p.Pro95Gln
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro95Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-42407732-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407732
    reference: chr 8
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.305T>G
  hgvsp: ENSP00000391549.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*325T>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.305T>G
  hgvsp: ENSP00000408997.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.305T>G
  hgvsp: ENSP00000429586.1:p.Val102Gly
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.305T>G
  hgvsp: ENSP00000405694.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.305T>G
  hgvsp: ENSP00000390750.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val102Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-42407736-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407736
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407734
    reference: chr 8
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.313_314delTC
  hgvsp: ENSP00000390750.2:p.Ser105IlefsTer?
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.313_314delTC
  hgvsp: ENSP00000405694.2:p.Ser105IlefsTer25
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.313_314delTC
  hgvsp: ENSP00000429586.1:p.Ser105IlefsTer25
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.313_314delTC
  hgvsp: ENSP00000408997.2:p.Ser105IlefsTer25
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.313_314delTC
  hgvsp: ENSP00000391549.2:p.Ser105IlefsTer25
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*333_*334delTC
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser105IlefsTer25
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: ACT
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-42407740-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407740
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407740
    reference: chr 8
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.313T>C
  hgvsp: ENSP00000405694.2:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.313T>C
  hgvsp: ENSP00000408997.2:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.313T>C
  hgvsp: ENSP00000390750.2:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.313T>C
  hgvsp: ENSP00000429586.1:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.313T>C
  hgvsp: ENSP00000391549.2:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*333T>C
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser105Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-42407741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407741
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407741
    reference: chr 8
allele count: 5
allele frequency: 4.133461195066301e-5
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.314C>T
  hgvsp: ENSP00000408997.2:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.314C>T
  hgvsp: ENSP00000429586.1:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*334C>T
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.314C>T
  hgvsp: ENSP00000391549.2:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.314C>T
  hgvsp: ENSP00000405694.2:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000390750
  ensembl transcript: ENST00000416469
  gene symbol: SMIM19
  hgvsc: ENST00000416469.2:c.314C>T
  hgvsp: ENSP00000390750.2:p.Ser105Leu
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8786
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser105Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-42407755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407755
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407755
    reference: chr 8
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*4C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*4C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

8-42407775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407775
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407775
    reference: chr 8
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*368A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*24A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

8-42407780-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407780
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407780
    reference: chr 8
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*373T>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*29T>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*29T>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*29T>A
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*29T>A
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-42407787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407787
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407787
    reference: chr 8
allele count: 6
allele frequency: 4.962368703994706e-5
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*380A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*36A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*36A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*36A>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*36A>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-42407792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407792
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407792
    reference: chr 8
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*41C>T
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*41C>T
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*41C>T
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*41C>T
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-42407799-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42407799
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42407799
    reference: chr 8
allele count: 99
allele frequency: 8.19021145636851e-4
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000429586
  ensembl transcript: ENST00000490331
  gene symbol: SMIM19
  hgvsc: ENST00000490331.2:c.*48C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000405694
  ensembl transcript: ENST00000417410
  gene symbol: SMIM19
  hgvsc: ENST00000417410.2:c.*48C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000430708
  ensembl transcript: ENST00000498447
  gene symbol: SMIM19
  hgvsc: ENST00000498447.1:c.*392C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000391549
  ensembl transcript: ENST00000438528
  gene symbol: SMIM19
  hgvsc: ENST00000438528.3:c.*48C>G
  variant of: http://identifiers.org/hgnc/25166
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000176209
  ensembl protein: ENSP00000408997
  ensembl transcript: ENST00000414154
  gene symbol: SMIM19
  hgvsc: ENST00000414154.2:c.*48C>G
  variant of: http://identifiers.org/hgnc/25166
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

8-42552641-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552639
    reference: chr 8
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.126_127delCT
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-46_-45delCT
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-401_-400delCT
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: GCT
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-42552642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552642
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552642
    reference: chr 8
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.124C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-403C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-48C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

8-42552647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552647
    reference: chr 8
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.129T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-398T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-43T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-42552652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552652
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.134A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-393A>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-42552667-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552667
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552667
    reference: chr 8
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.149G>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-23G>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-378G>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

8-42552670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552670
    reference: chr 8
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.152T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-20T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-375T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.25e1
  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: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-42552676-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552676
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552676
    reference: chr 8
allele count: 7
allele frequency: 5.766822645488697e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-14A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.158A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-369A>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48627
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-42552689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552689
    reference: chr 8
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.171G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-356G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48627
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

8-42552690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552690
    reference: chr 8
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.1A>G
  hgvsp: ENSP00000289957.2:p.Met1?
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-355A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.172A>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48628
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

8-42552708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552708
    reference: chr 8
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.19C>T
  hgvsp: ENST00000289957.2:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.190C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-337C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-42552717-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552717
    reference: chr 8
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.28A>T
  hgvsp: ENSP00000289957.2:p.Ile10Phe
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.199A>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-328A>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile10Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-42552719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552719
    reference: chr 8
allele count: 468
allele frequency: 3.855278766310795e-3
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.30C>T
  hgvsp: ENST00000289957.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.201C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-326C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 9.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48752
  bin: 9.75e1
  variant carriers: 456
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile10Ile
num of homozygotes: 12
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

8-42552726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552726
    reference: chr 8
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.37G>A
  hgvsp: ENSP00000289957.2:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.208G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-319G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly13Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-42552730-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552730
    reference: chr 8
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-315T>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.212T>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.41T>A
  hgvsp: ENSP00000289957.2:p.Ile14Asn
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile14Asn
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: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

8-42552732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552732
    reference: chr 8
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.43C>T
  hgvsp: ENSP00000289957.2:p.Pro15Ser
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.214C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-313C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro15Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-42552742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552742
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552742
    reference: chr 8
allele count: 48
allele frequency: 3.954522985664854e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+1G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+1G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+1G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48603
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.25e1
  variant carriers: 0
hgvs: c.52+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-42552752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552752
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552752
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+11G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+11G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+11G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  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: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-42552757-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552757
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552757
    reference: chr 8
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+16A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+16A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+16A>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48596
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-42552762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552762
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552762
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+21A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+21A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+21A>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-42552763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552763
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+22T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+22T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+22T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 53
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-42552766-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552766
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552766
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+25A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+25A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+25A>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

8-42552772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552772
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552772
    reference: chr 8
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+31C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+31C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+31C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48595
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-42552778-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552778
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552778
    reference: chr 8
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+37C>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+37C>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+37C>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-42552781-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42552781
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42552781
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-304+40A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.52+40A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.223+40A>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-42563809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563809
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563809
    reference: chr 8
allele count: 3
allele frequency: 2.561869139724343e-5
allele num: 117102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-51A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2673T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-51A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-51A>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

8-42563811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563811
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563811
    reference: chr 8
allele count: 2
allele frequency: 1.707650273224044e-5
allele num: 117120
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2675C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-49G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-49G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-49G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-42563815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563815
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563815
    reference: chr 8
allele count: 1
allele frequency: 8.542335816305611e-6
allele num: 117064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-45C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2679G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-45C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-45C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43890
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

8-42563816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563816
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563816
    reference: chr 8
allele count: 4
allele frequency: 3.409362108349528e-5
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2680C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-44G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-44G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-44G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43905
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

8-42563823-TCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563823
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563821
    reference: chr 8
allele count: 1
allele frequency: 8.496176720475786e-6
allele num: 117700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-35_53-34delCC
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2689_272-2688delGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-35_-170-34delCC
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-35_473-34delCC
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TCC
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

8-42563828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563828
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563828
    reference: chr 8
allele count: 1
allele frequency: 8.480757161999423e-6
allele num: 117914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-32T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-32T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-32T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2692A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43949
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

8-42563846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563846
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563846
    reference: chr 8
allele count: 1
allele frequency: 8.373946976167747e-6
allele num: 119418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-14T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-14T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2710A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-14T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

8-42563857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563857
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563857
    reference: chr 8
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.53-3C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-170-3C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2721G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.473-3C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
hgvs: c.53-3C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-42563868-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563868
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563868
    reference: chr 8
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-162G>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.61G>T
  hgvsp: ENSP00000289957.2:p.Gly21Cys
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.481G>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2732C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly21Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-42563881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563881
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563881
    reference: chr 8
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.74T>C
  hgvsp: ENSP00000289957.2:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2745A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-149T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.494T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43976
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile25Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

8-42563882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563882
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563882
    reference: chr 8
allele count: 383
allele frequency: 3.159231885970701e-3
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.75C>T
  hgvsp: ENST00000289957.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.495C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2746G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile25Ile
num of homozygotes: 6
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

8-42563883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563883
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563883
    reference: chr 8
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.496G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-147G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2747C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.76G>A
  hgvsp: ENSP00000289957.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala26Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-42563885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563885
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563885
    reference: chr 8
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.78C>T
  hgvsp: ENST00000289957.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-145C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.498C>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2749G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala26Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

8-42563886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563886
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563886
    reference: chr 8
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.79G>A
  hgvsp: ENSP00000289957.2:p.Glu27Lys
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.499G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-144G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2750C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43978
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu27Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-42563891-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563891
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563891
    reference: chr 8
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-139T>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.84T>G
  hgvsp: ENSP00000289957.2:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2755A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147432
  ensembl transcript: ENST00000531610
  gene symbol: CHRNB3
  hgvsc: ENST00000531610.1:n.504T>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7117
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn28Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-42563912-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563909
    reference: chr 8
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.108_110delGTT
  hgvsp: ENSP00000289957.2:p.Leu36del
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2779_272-2777delCAA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-115_-113delGTT
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu36del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: TTTG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

8-42563914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563914
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563914
    reference: chr 8
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2778A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.107T>C
  hgvsp: ENSP00000289957.2:p.Leu36Ser
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-116T>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu36Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/8-42563929-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563929
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563929
    reference: chr 8
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.122A>C
  hgvsp: ENSP00000289957.2:p.Gln41Pro
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2793T>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-101A>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln41Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

8-42563935-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563935
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563935
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.128G>C
  hgvsp: ENSP00000289957.2:p.Trp43Ser
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2799C>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  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: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 8.25e1
  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: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp43Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

8-42563936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563936
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563936
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.129G>A
  hgvsp: ENSP00000289957.2:p.Trp43Ter
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2800C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-94G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp43Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

8-42563937-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563937
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.130G>T
  hgvsp: ENSP00000289957.2:p.Val44Phe
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-93G>T
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2801C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val44Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-42563939-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563939
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563939
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-91C>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2803G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.132C>G
  hgvsp: ENST00000289957.2:c.132C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 6.75e1
  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: 7155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val44Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

8-42563940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563940
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563940
    reference: chr 8
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.133C>T
  hgvsp: ENSP00000289957.2:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2804G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-90C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43982
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg45Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-42563941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563941
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563941
    reference: chr 8
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2805C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.134G>A
  hgvsp: ENSP00000289957.2:p.Arg45His
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-89G>A
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg45His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-42563948-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563948
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563948
    reference: chr 8
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-82A>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2812T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.141A>C
  hgvsp: ENST00000289957.2:c.141A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  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: 5.25e1
  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: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val47Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-42563954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563954
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563954
    reference: chr 8
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.147T>C
  hgvsp: ENST00000289957.2:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2818A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His49His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

8-42563960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563960
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563960
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-70T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.153T>C
  hgvsp: ENST00000289957.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2824A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn51Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

8-42563963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563963
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563963
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2827G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.156C>T
  hgvsp: ENST00000289957.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-67C>T
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp52Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

8-42563967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563967
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563967
    reference: chr 8
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-63A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2831T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.160A>G
  hgvsp: ENSP00000289957.2:p.Ile54Val
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile54Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-42563968-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563968
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563967
    reference: chr 8
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-58delA
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.165delA
  hgvsp: ENSP00000289957.2:p.Val56TyrfsTer5
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2833delT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43984
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val56TyrfsTer5
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: TA
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

8-42563975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563975
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563975
    reference: chr 8
allele count: 5
allele frequency: 4.123711340206185e-5
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-55A>G
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.168A>G
  hgvsp: ENST00000289957.2:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2839T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  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: 1693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val56Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

8-42563976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563976
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563976
    reference: chr 8
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.169T>C
  hgvsp: ENSP00000289957.2:p.Tyr57His
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2840A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  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: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43984
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr57His
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

8-42563983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563983
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563983
    reference: chr 8
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2847C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.176G>A
  hgvsp: ENSP00000289957.2:p.Gly59Glu
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly59Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

8-42563986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563986
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563986
    reference: chr 8
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.179T>C
  hgvsp: ENSP00000289957.2:p.Leu60Ser
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2850A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu60Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

8-42563986-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42563986
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42563986
    reference: chr 8
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255101
  ensembl transcript: ENST00000527318
  gene symbol: RP11-412B14.1
  hgvsc: ENST00000527318.1:n.272-2850A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000289957
  ensembl transcript: ENST00000289957
  gene symbol: CHRNB3
  hgvsc: ENST00000289957.2:c.179T>G
  hgvsp: ENSP00000289957.2:p.Leu60Trp
  variant of: http://identifiers.org/hgnc/1963
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147432
  ensembl protein: ENSP00000433913
  ensembl transcript: ENST00000534391
  gene symbol: CHRNB3
  hgvsc: ENST00000534391.1:c.-44T>G
  variant of: http://identifiers.org/hgnc/1963
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  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: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu60Trp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4658
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.837896e6

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 3.591e0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8878
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.762e0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.838321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -2.066e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 5.835e1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.551e0

FS
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.841933e6

QD
type: SiteQuality
SIO_000300: 1.122e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.128e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

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

GenotypeQuality
all individuals: 4682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1618
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024096385542168e-5
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.073120369245718e-4
allele num: 16466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.091e1

DP
type: SiteQuality
SIO_000300: 1.842528e6

GenotypeQuality
all individuals: 3296
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4675
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7799
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8236
bin: 9.75e1
variant carriers: 26

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.255965952272382e-4
allele num: 65790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

African
type: Population
allele count: 17
allele frequency: 1.696606786427146e-3
allele num: 10020
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4965e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.874e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 1.857099e6

VQSLOD
type: SiteQuality
SIO_000300: -1.123e2

GenotypeQuality
all individuals: 28231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8781
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7845
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.074e1

DP
type: SiteQuality
SIO_000300: 1.831682e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

FS
type: SiteQuality
SIO_000300: 4.889e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
all individuals: 28283
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.83247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.434e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 5.066e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 9.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8782
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
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GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.832518e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

QD
type: SiteQuality
SIO_000300: 1.693e1

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.508e1

FS
type: SiteQuality
SIO_000300: 8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.59e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.832407e6

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3556
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3315
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.519249278152069e-5
allele num: 66496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.832883e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28169
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 16482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.832006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.506e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3558
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GenotypeQuality
all individuals: 1629
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 4.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.941e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.026356962330004e-5
allele num: 66472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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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African
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allele frequency: 0.0e0
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Other
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South Asian
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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: 66464
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele num: 11522
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11514
num of homozygotes: 0

African
type: Population
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Other
type: Population
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num of homozygotes: 0

South Asian
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allele frequency: 1.214181641573579e-4
allele num: 16472
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European (Non-Finnish)
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allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 95
allele frequency: 1.101576994434137e-2
allele num: 8624
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.829665e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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QD
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FS
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
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 1.155802126675913e-4
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Other
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num of homozygotes: 0

East Asian
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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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DP
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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East Asian
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African
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Latino
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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QD
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MQ
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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African
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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QD
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MQRankSum
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DP
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GenotypeQuality
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Latino
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South Asian
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East Asian
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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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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East Asian
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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Other
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East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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East Asian
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ReadPosRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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South Asian
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FS
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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Other
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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South Asian
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 3.314086e6

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

East Asian
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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
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2449e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.905e0

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 3.310774e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.203e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.310479e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.666e1

DP
type: SiteQuality
SIO_000300: 3.310353e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

Other
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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: 8654
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 3.310122e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

QD
type: SiteQuality
SIO_000300: 1.815e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 3.309627e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 4
allele frequency: 5.995203836930456e-5
allele num: 66720
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 3.309329e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 6.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.711e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 3.308442e6

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: -1.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.808e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 3.307944e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.032e-1

FS
type: SiteQuality
SIO_000300: 2.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.316e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.565515142291888e-5
allele num: 65710
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: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13358
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.7459e1

DP
type: SiteQuality
SIO_000300: 2.962679e6

MQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 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: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521838380763963e-5
allele num: 65710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 2.963044e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

South Asian
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allele frequency: 7.486150621350502e-5
allele num: 13358
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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
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num of homozygotes: 0

East Asian
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allele frequency: 4.631773969430292e-4
allele num: 8636
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
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 frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele 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: 65844
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13978
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
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: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.978507e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

VQSLOD
type: SiteQuality
SIO_000300: -4.987e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.087e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 6.625e0

ClippingRankSum
type: SiteQuality
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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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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
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: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.431695394906098e-5
allele num: 15548
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.014229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 9.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.682e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 3.02519e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 3.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 376

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

African
type: Population
allele count: 361
allele frequency: 3.469819300269127e-2
allele num: 10404
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
allele count: 1
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allele num: 908
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South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.38217000691085e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001680470531749e-5
allele num: 66648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

DP
type: SiteQuality
SIO_000300: 3.049162e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
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: 8652
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.834e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.041417e6

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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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: 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
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 3.04195e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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: 1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.213297743266198e-4
allele num: 16484
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East Asian
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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

Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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Other
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66704
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Latino
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allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.042701e6

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele num: 16512
num of homozygotes: 0

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

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

East Asian
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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Other
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66730
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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num of homozygotes: 0

South Asian
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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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allele num: 66732
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQ
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QD
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

Other
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Latino
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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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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

South Asian
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.997242536866083e-5
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num of homozygotes: 0

South Asian
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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African
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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African
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Other
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European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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QD
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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Latino
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African
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DP
type: SiteQuality
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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BaseQRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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African
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 3.041361e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 6790
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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: 3
allele frequency: 4.500045000450004e-5
allele num: 66666
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 3.040071e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

MQRankSum
type: SiteQuality
SIO_000300: -1.104e0

GenotypeQuality
all individuals: 1674
bin: 6.75e1
variant carriers: 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: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 3.039117e6

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 16336
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 5.97e1