2-17902288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902288
    reference: chr 2
allele count: 16
allele frequency: 1.322773194001224e-4
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.864A>G
  hgvsp: ENST00000402989.1:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.942A>G
  hgvsp: ENST00000381272.4:c.942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.942A>G
  hgvsp: ENST00000446852.1:c.942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.864A>G
  hgvsp: ENST00000448223.2:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.864A>G
  hgvsp: ENST00000351948.4:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys288Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-17902288-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902288
    reference: chr 2
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.864A>C
  hgvsp: ENSP00000404092.2:p.Lys288Asn
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.864A>C
  hgvsp: ENSP00000384539.1:p.Lys288Asn
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.942A>C
  hgvsp: ENSP00000408644.1:p.Lys314Asn
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.864A>C
  hgvsp: ENSP00000323439.4:p.Lys288Asn
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.942A>C
  hgvsp: ENSP00000370672.4:p.Lys314Asn
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys288Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-17902292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902292
    reference: chr 2
allele count: 2
allele frequency: 1.653657891255457e-5
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.860A>G
  hgvsp: ENSP00000404092.2:p.Glu287Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.860A>G
  hgvsp: ENSP00000384539.1:p.Glu287Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.938A>G
  hgvsp: ENSP00000408644.1:p.Glu313Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.860A>G
  hgvsp: ENSP00000323439.4:p.Glu287Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.938A>G
  hgvsp: ENSP00000370672.4:p.Glu313Gly
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu287Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

2-17902301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902301
    reference: chr 2
allele count: 2
allele frequency: 1.65404082172748e-5
allele num: 120916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.851A>G
  hgvsp: ENSP00000323439.4:p.Asn284Ser
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.851A>G
  hgvsp: ENSP00000404092.2:p.Asn284Ser
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.929A>G
  hgvsp: ENSP00000408644.1:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.851A>G
  hgvsp: ENSP00000384539.1:p.Asn284Ser
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.929A>G
  hgvsp: ENSP00000370672.4:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn284Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

2-17902310-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902309
    reference: chr 2
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-6delT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-6delT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-6delT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-6delT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-6delT
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
hgvs: c.847-6delT
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: GA
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-17902321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902321
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902321
    reference: chr 2
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-16A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

2-17902326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902326
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-21G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-17902335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902335
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-30G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-30G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-30G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-30G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-30G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

2-17902345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902345
    reference: chr 2
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-40T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-40T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-40T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-40T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-40T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

2-17902346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902346
    reference: chr 2
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-41A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-41A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-41A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-41A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-41A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

2-17902352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902352
    reference: chr 2
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-47G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-47G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-47G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-47G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-47G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-17902356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902356
    reference: chr 2
allele count: 164
allele frequency: 1.357795734534375e-3
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.847-51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.925-51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.925-51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.847-51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.847-51T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 33226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 3
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-17902358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902358
    reference: chr 2
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+51T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+51T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-17902364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902364
    reference: chr 2
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+45A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+45A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+45A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+45A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+45A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-17902367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902367
    reference: chr 2
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+42T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+42T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+42T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+42T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+42T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-17902370-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902370
    reference: chr 2
allele count: 193
allele frequency: 1.597999602570047e-3
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+39A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+39A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+39A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+39A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+39A>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 33030
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 9.75e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-17902375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902375
    reference: chr 2
allele count: 3
allele frequency: 2.483854942871336e-5
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+34A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+34A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+34A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+34A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+34A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43830
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-17902377-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902377
    reference: chr 2
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+32C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+32C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+32C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+32C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+32C>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-17902378-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902378
    reference: chr 2
allele count: 2
allele frequency: 1.655683963045134e-5
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+31T>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+31T>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+31T>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+31T>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+31T>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-17902379-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902379
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+30A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+30A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+30A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+30A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+30A>T
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-17902381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902381
    reference: chr 2
allele count: 13064
allele frequency: 1.081331633751055e-1
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+28G>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+28G>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+28G>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+28G>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+28G>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 9.75e1
  variant carriers: 5558
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 3.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 620
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 758
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.25e1
  variant carriers: 690
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.75e1
  variant carriers: 687
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14395
  bin: 9.75e1
  variant carriers: 12064
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38092
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 4
num of homozygotes: 886
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-17902381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902381
    reference: chr 2
allele count: 7
allele frequency: 5.794030493154767e-5
allele num: 120814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+28G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+28G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+28G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+28G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+28G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14395
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-17902382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902382
    reference: chr 2
allele count: 4
allele frequency: 3.311258278145695e-5
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+27C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+27C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+27C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+27C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+27C>T
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-17902382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902382
    reference: chr 2
allele count: 169
allele frequency: 1.399006622516556e-3
allele num: 120800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+27C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+27C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+27C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+27C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+27C>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19079
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-17902388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902388
    reference: chr 2
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.924+21T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.846+21T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.846+21T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.846+21T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.924+21T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-17902426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902426
    reference: chr 2
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.907G>A
  hgvsp: ENSP00000370672.4:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.829G>A
  hgvsp: ENSP00000404092.2:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.829G>A
  hgvsp: ENSP00000384539.1:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.829G>A
  hgvsp: ENSP00000323439.4:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.907G>A
  hgvsp: ENSP00000408644.1:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu277Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

2-17902437-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902437
    reference: chr 2
allele count: 7
allele frequency: 5.786462983169659e-5
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.818C>A
  hgvsp: ENSP00000404092.2:p.Ser273Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.896C>A
  hgvsp: ENSP00000370672.4:p.Ser299Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.818C>A
  hgvsp: ENSP00000323439.4:p.Ser273Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.896C>A
  hgvsp: ENSP00000408644.1:p.Ser299Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.818C>A
  hgvsp: ENSP00000384539.1:p.Ser273Tyr
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19765
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser273Tyr
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-17902439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902439
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902439
    reference: chr 2
allele count: 5
allele frequency: 4.133324515574367e-5
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.816G>A
  hgvsp: ENST00000351948.4:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.816G>A
  hgvsp: ENST00000448223.2:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.894G>A
  hgvsp: ENST00000446852.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.894G>A
  hgvsp: ENST00000381272.4:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.816G>A
  hgvsp: ENST00000402989.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu272Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-17902455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902455
    reference: chr 2
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.878T>C
  hgvsp: ENSP00000408644.1:p.Met293Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.800T>C
  hgvsp: ENSP00000384539.1:p.Met267Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.800T>C
  hgvsp: ENSP00000404092.2:p.Met267Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.800T>C
  hgvsp: ENSP00000323439.4:p.Met267Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.878T>C
  hgvsp: ENSP00000370672.4:p.Met293Thr
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met267Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-17902470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902470
    reference: chr 2
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.863C>T
  hgvsp: ENSP00000408644.1:p.Ala288Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.785C>T
  hgvsp: ENSP00000384539.1:p.Ala262Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.785C>T
  hgvsp: ENSP00000404092.2:p.Ala262Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.785C>T
  hgvsp: ENSP00000323439.4:p.Ala262Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.863C>T
  hgvsp: ENSP00000370672.4:p.Ala288Val
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala262Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-17902471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902471
    reference: chr 2
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.862G>C
  hgvsp: ENSP00000408644.1:p.Ala288Pro
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.862G>C
  hgvsp: ENSP00000370672.4:p.Ala288Pro
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.784G>C
  hgvsp: ENSP00000384539.1:p.Ala262Pro
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.784G>C
  hgvsp: ENSP00000404092.2:p.Ala262Pro
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.784G>C
  hgvsp: ENSP00000323439.4:p.Ala262Pro
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48133
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 51
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala262Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-17902474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902474
    reference: chr 2
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.781A>G
  hgvsp: ENSP00000404092.2:p.Ile261Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.859A>G
  hgvsp: ENSP00000370672.4:p.Ile287Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.859A>G
  hgvsp: ENSP00000408644.1:p.Ile287Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.781A>G
  hgvsp: ENSP00000323439.4:p.Ile261Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.781A>G
  hgvsp: ENSP00000384539.1:p.Ile261Val
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile261Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-17902485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902485
    reference: chr 2
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.770G>A
  hgvsp: ENSP00000323439.4:p.Arg257His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.848G>A
  hgvsp: ENSP00000408644.1:p.Arg283His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.770G>A
  hgvsp: ENSP00000404092.2:p.Arg257His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.770G>A
  hgvsp: ENSP00000384539.1:p.Arg257His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.848G>A
  hgvsp: ENSP00000370672.4:p.Arg283His
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg257His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-17902486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902486
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.769C>T
  hgvsp: ENSP00000323439.4:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.847C>T
  hgvsp: ENSP00000408644.1:p.Arg283Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.769C>T
  hgvsp: ENSP00000404092.2:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.847C>T
  hgvsp: ENSP00000370672.4:p.Arg283Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.769C>T
  hgvsp: ENSP00000384539.1:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg257Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-17902490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902490
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902490
    reference: chr 2
allele count: 30
allele frequency: 2.485789569626966e-4
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.843G>A
  hgvsp: ENST00000381272.4:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.765G>A
  hgvsp: ENST00000351948.4:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.765G>A
  hgvsp: ENST00000448223.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.843G>A
  hgvsp: ENST00000446852.1:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.765G>A
  hgvsp: ENST00000402989.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19758
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu255Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

2-17902491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902491
    reference: chr 2
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.764A>G
  hgvsp: ENSP00000404092.2:p.Glu255Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.842A>G
  hgvsp: ENSP00000408644.1:p.Glu281Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.764A>G
  hgvsp: ENSP00000384539.1:p.Glu255Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.764A>G
  hgvsp: ENSP00000323439.4:p.Glu255Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.842A>G
  hgvsp: ENSP00000370672.4:p.Glu281Gly
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu255Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-17902502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902502
    reference: chr 2
allele count: 2
allele frequency: 1.662040653514385e-5
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.831T>C
  hgvsp: ENST00000446852.1:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.753T>C
  hgvsp: ENST00000402989.1:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.753T>C
  hgvsp: ENST00000448223.2:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.831T>C
  hgvsp: ENST00000381272.4:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.753T>C
  hgvsp: ENST00000351948.4:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys251Cys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-17902503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902503
    reference: chr 2
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.752G>A
  hgvsp: ENSP00000404092.2:p.Cys251Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.752G>A
  hgvsp: ENSP00000384539.1:p.Cys251Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.830G>A
  hgvsp: ENSP00000408644.1:p.Cys277Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.830G>A
  hgvsp: ENSP00000370672.4:p.Cys277Tyr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.752G>A
  hgvsp: ENSP00000323439.4:p.Cys251Tyr
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys251Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

2-17902509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902509
    reference: chr 2
allele count: 2
allele frequency: 1.667667267026883e-5
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.824G>A
  hgvsp: ENSP00000408644.1:p.Arg275His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.746G>A
  hgvsp: ENSP00000404092.2:p.Arg249His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.824G>A
  hgvsp: ENSP00000370672.4:p.Arg275His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.746G>A
  hgvsp: ENSP00000323439.4:p.Arg249His
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.746G>A
  hgvsp: ENSP00000384539.1:p.Arg249His
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg249His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

2-17902510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902510
    reference: chr 2
allele count: 2
allele frequency: 1.66786196774355e-5
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.823C>T
  hgvsp: ENSP00000370672.4:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.745C>T
  hgvsp: ENSP00000384539.1:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.823C>T
  hgvsp: ENSP00000408644.1:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.745C>T
  hgvsp: ENSP00000323439.4:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.745C>T
  hgvsp: ENSP00000404092.2:p.Arg249Cys
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg249Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

2-17902516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902516
    reference: chr 2
allele count: 3
allele frequency: 2.511721366376423e-5
allele num: 119440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.817C>G
  hgvsp: ENSP00000370672.4:p.Leu273Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.739C>G
  hgvsp: ENSP00000384539.1:p.Leu247Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.817C>G
  hgvsp: ENSP00000408644.1:p.Leu273Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.739C>G
  hgvsp: ENSP00000404092.2:p.Leu247Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.739C>G
  hgvsp: ENSP00000323439.4:p.Leu247Val
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu247Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-17902527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902527
    reference: chr 2
allele count: 1
allele frequency: 8.511217785040683e-6
allele num: 117492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.728G>A
  hgvsp: ENSP00000404092.2:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.728G>A
  hgvsp: ENSP00000384539.1:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.728G>A
  hgvsp: ENSP00000323439.4:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.806G>A
  hgvsp: ENSP00000370672.4:p.Arg269Gln
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.806G>A
  hgvsp: ENSP00000408644.1:p.Arg269Gln
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg243Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

2-17902528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902528
    reference: chr 2
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727C>T
  hgvsp: ENSP00000323439.4:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727C>T
  hgvsp: ENSP00000384539.1:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805C>T
  hgvsp: ENSP00000370672.4:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805C>T
  hgvsp: ENSP00000408644.1:p.Arg269Trp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727C>T
  hgvsp: ENSP00000404092.2:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg243Trp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-17902544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902544
    reference: chr 2
allele count: 2
allele frequency: 1.778663156771371e-5
allele num: 112444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-16G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-16G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-16G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-16G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-16G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35012
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-17902549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902549
    reference: chr 2
allele count: 2
allele frequency: 1.804695818519789e-5
allele num: 110822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-21G>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-21G>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-17902554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902554
    reference: chr 2
allele count: 2
allele frequency: 1.831837332844843e-5
allele num: 109180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-26C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-26C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-26C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-26C>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-26C>T
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-17902560-TTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902557
    reference: chr 2
allele count: 28
allele frequency: 2.6234423311159e-4
allele num: 106730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-35_727-33delTAA
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-35_727-33delTAA
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-35_805-33delTAA
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-35_805-33delTAA
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-35_727-33delTAA
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: TTTA
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

2-17902567-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902567
    reference: chr 2
allele count: 1
allele frequency: 9.584052137243626e-6
allele num: 104340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-39T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-39T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-39T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-39T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-39T>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

2-17902568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902568
    reference: chr 2
allele count: 2
allele frequency: 1.917472004908728e-5
allele num: 104304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-40A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-40A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-40A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-40A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-40A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16781
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-17902570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902570
    reference: chr 2
allele count: 2
allele frequency: 1.932255134968021e-5
allele num: 103506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-42A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-42A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-42A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-42A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-42A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-17902572-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17902572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17902572
    reference: chr 2
allele count: 6
allele frequency: 5.892057506481263e-5
allele num: 101832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.805-44C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.805-44C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.727-44C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.727-44C>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.727-44C>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-17906475-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906475
    reference: chr 2
allele count: 10
allele frequency: 1.235116842053258e-4
allele num: 80964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+49T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+49T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+49T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+49T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+49T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16275
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-17906483-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906483
    reference: chr 2
allele count: 1
allele frequency: 1.225790634959549e-5
allele num: 81580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+41A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+41A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+41A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+41A>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+41A>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-17906489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906489
    reference: chr 2
allele count: 1
allele frequency: 1.215657670799903e-5
allele num: 82260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+35C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+35C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+35C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+35C>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+35C>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10302
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13281
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-17906493-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906493
    reference: chr 2
allele count: 2
allele frequency: 2.392344497607656e-5
allele num: 83600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+31A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+31A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+31A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+31A>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+31A>T
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13922
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
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genotype quality: GenotypeQuality
  all individuals: 6282
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3969
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genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 736
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

2-17906507-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906507
    reference: chr 2
allele count: 2
allele frequency: 2.22000222000222e-5
allele num: 90090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+17T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+17T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+17T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+17T>C
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+17T>C
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

2-17906508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906508
    reference: chr 2
allele count: 1
allele frequency: 1.100836635843241e-5
allele num: 90840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.726+16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.804+16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.726+16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.726+16A>G
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.804+16A>G
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-17906527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906527
    reference: chr 2
allele count: 13
allele frequency: 1.242069861652526e-4
allele num: 104664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.801A>G
  hgvsp: ENST00000381272.4:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.723A>G
  hgvsp: ENST00000351948.4:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.723A>G
  hgvsp: ENST00000448223.2:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.801A>G
  hgvsp: ENST00000446852.1:c.801A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.723A>G
  hgvsp: ENST00000402989.1:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31798
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu241Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

2-17906533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906533
    reference: chr 2
allele count: 1
allele frequency: 9.341429238673518e-6
allele num: 107050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.795A>G
  hgvsp: ENST00000381272.4:c.795A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.717A>G
  hgvsp: ENST00000402989.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.717A>G
  hgvsp: ENST00000448223.2:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.795A>G
  hgvsp: ENST00000446852.1:c.795A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.717A>G
  hgvsp: ENST00000351948.4:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln239Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-17906557-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906557
    reference: chr 2
allele count: 5
allele frequency: 4.441601819280105e-5
allele num: 112572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.771A>T
  hgvsp: ENSP00000408644.1:p.Glu257Asp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.693A>T
  hgvsp: ENSP00000384539.1:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.693A>T
  hgvsp: ENSP00000404092.2:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.771A>T
  hgvsp: ENSP00000370672.4:p.Glu257Asp
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.693A>T
  hgvsp: ENSP00000323439.4:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu231Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-17906564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906564
    reference: chr 2
allele count: 2
allele frequency: 1.764353011750591e-5
allele num: 113356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.764C>T
  hgvsp: ENSP00000370672.4:p.Thr255Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.764C>T
  hgvsp: ENSP00000408644.1:p.Thr255Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.686C>T
  hgvsp: ENSP00000323439.4:p.Thr229Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.686C>T
  hgvsp: ENSP00000384539.1:p.Thr229Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.686C>T
  hgvsp: ENSP00000404092.2:p.Thr229Met
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35942
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr229Met
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-17906567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906567
    reference: chr 2
allele count: 1
allele frequency: 8.811504300014099e-6
allele num: 113488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.761A>G
  hgvsp: ENSP00000370672.4:p.Glu254Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.683A>G
  hgvsp: ENSP00000384539.1:p.Glu228Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.683A>G
  hgvsp: ENSP00000404092.2:p.Glu228Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.683A>G
  hgvsp: ENSP00000323439.4:p.Glu228Gly
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.761A>G
  hgvsp: ENSP00000408644.1:p.Glu254Gly
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu228Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-17906570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906570
    reference: chr 2
allele count: 1
allele frequency: 8.810572687224669e-6
allele num: 113500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.758T>C
  hgvsp: ENSP00000370672.4:p.Met253Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.680T>C
  hgvsp: ENSP00000323439.4:p.Met227Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.680T>C
  hgvsp: ENSP00000384539.1:p.Met227Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.758T>C
  hgvsp: ENSP00000408644.1:p.Met253Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.680T>C
  hgvsp: ENSP00000404092.2:p.Met227Thr
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met227Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-17906571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906571
    reference: chr 2
allele count: 1
allele frequency: 8.804987144718768e-6
allele num: 113572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.757A>G
  hgvsp: ENSP00000370672.4:p.Met253Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.679A>G
  hgvsp: ENSP00000384539.1:p.Met227Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.679A>G
  hgvsp: ENSP00000404092.2:p.Met227Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.679A>G
  hgvsp: ENSP00000323439.4:p.Met227Val
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.757A>G
  hgvsp: ENSP00000408644.1:p.Met253Val
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met227Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-17906578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906578
    reference: chr 2
allele count: 1
allele frequency: 8.837982111924206e-6
allele num: 113148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.672A>G
  hgvsp: ENST00000351948.4:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.750A>G
  hgvsp: ENST00000446852.1:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.672A>G
  hgvsp: ENST00000402989.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.672A>G
  hgvsp: ENST00000448223.2:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.750A>G
  hgvsp: ENST00000381272.4:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser224Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-17906595-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906595
    reference: chr 2
allele count: 1
allele frequency: 8.98069151324652e-6
allele num: 111350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.655A>T
  hgvsp: ENSP00000384539.1:p.Met219Leu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.733A>T
  hgvsp: ENSP00000370672.4:p.Met245Leu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.733A>T
  hgvsp: ENSP00000408644.1:p.Met245Leu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.655A>T
  hgvsp: ENSP00000323439.4:p.Met219Leu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.655A>T
  hgvsp: ENSP00000404092.2:p.Met219Leu
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met219Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-17906605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906605
    reference: chr 2
allele count: 29
allele frequency: 2.646178553179064e-4
allele num: 109592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.645A>G
  hgvsp: ENST00000351948.4:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.645A>G
  hgvsp: ENST00000448223.2:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.723A>G
  hgvsp: ENST00000381272.4:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.645A>G
  hgvsp: ENST00000402989.1:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.723A>G
  hgvsp: ENST00000446852.1:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27690
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln215Gln
num of homozygotes: 2
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-17906607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906607
    reference: chr 2
allele count: 1
allele frequency: 9.125586318920991e-6
allele num: 109582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.721C>G
  hgvsp: ENSP00000408644.1:p.Gln241Glu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.643C>G
  hgvsp: ENSP00000384539.1:p.Gln215Glu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.643C>G
  hgvsp: ENSP00000404092.2:p.Gln215Glu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.643C>G
  hgvsp: ENSP00000323439.4:p.Gln215Glu
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.721C>G
  hgvsp: ENSP00000370672.4:p.Gln241Glu
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln215Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-17906608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906608
    reference: chr 2
allele count: 110
allele frequency: 1.00612823561694e-3
allele num: 109330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.720G>A
  hgvsp: ENST00000381272.4:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.642G>A
  hgvsp: ENST00000448223.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.642G>A
  hgvsp: ENST00000402989.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.642G>A
  hgvsp: ENST00000351948.4:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.720G>A
  hgvsp: ENST00000446852.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27375
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 33780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr214Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-17906609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906609
    reference: chr 2
allele count: 1
allele frequency: 9.165230780511052e-6
allele num: 109108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.719C>T
  hgvsp: ENSP00000370672.4:p.Thr240Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.641C>T
  hgvsp: ENSP00000323439.4:p.Thr214Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.641C>T
  hgvsp: ENSP00000404092.2:p.Thr214Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.719C>T
  hgvsp: ENSP00000408644.1:p.Thr240Met
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.641C>T
  hgvsp: ENSP00000384539.1:p.Thr214Met
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr214Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-17906613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906613
    reference: chr 2
allele count: 2
allele frequency: 1.849796522382538e-5
allele num: 108120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.637G>A
  hgvsp: ENSP00000404092.2:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.715G>A
  hgvsp: ENSP00000370672.4:p.Ala239Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.715G>A
  hgvsp: ENSP00000408644.1:p.Ala239Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.637G>A
  hgvsp: ENSP00000323439.4:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.637G>A
  hgvsp: ENSP00000384539.1:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25335
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala213Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

2-17906635-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906635
    reference: chr 2
allele count: 6
allele frequency: 6.014796399141889e-5
allele num: 99754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.703-10T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.625-10T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.625-10T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.625-10T>A
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.703-10T>A
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14830
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-17906639-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906639
    reference: chr 2
allele count: 2
allele frequency: 2.52831715210356e-5
allele num: 79104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.625-14G>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.703-14G>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.625-14G>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.703-14G>T
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.625-14G>T
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-17906639-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17906639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 17906640
    reference: chr 2
allele count: 223
allele frequency: 2.819073624595469e-3
allele num: 79104
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000408644
  ensembl transcript: ENST00000446852
  gene symbol: SMC6
  hgvsc: ENST00000446852.1:c.703-15dupT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000370672
  ensembl transcript: ENST00000381272
  gene symbol: SMC6
  hgvsc: ENST00000381272.4:c.703-15dupT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000384539
  ensembl transcript: ENST00000402989
  gene symbol: SMC6
  hgvsc: ENST00000402989.1:c.625-15dupT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000323439
  ensembl transcript: ENST00000351948
  gene symbol: SMC6
  hgvsc: ENST00000351948.4:c.625-15dupT
  variant of: http://identifiers.org/hgnc/20466
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163029
  ensembl protein: ENSP00000404092
  ensembl transcript: ENST00000448223
  gene symbol: SMC6
  hgvsc: ENST00000448223.2:c.625-15dupT
  variant of: http://identifiers.org/hgnc/20466
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 1.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 15869
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 10582
  bin: 6.25e1
  variant carriers: 10
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.255164326307244e-4
allele num: 66514
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.698873e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

DP
type: SiteQuality
SIO_000300: 1.698873e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.698352e6

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

FS
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 9.946999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.343e-1

DP
type: SiteQuality
SIO_000300: 1.698264e6

QD
type: SiteQuality
SIO_000300: 1.692e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.047e0

QD
type: SiteQuality
SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.094e1

DP
type: SiteQuality
SIO_000300: 1.697863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
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: 11494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.696746e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.685e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.012e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 1.696576e6

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.714e0

GenotypeQuality
all individuals: 5182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
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: 8608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.975e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.696263e6

GenotypeQuality
all individuals: 4300
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 271
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 4.184e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.694192e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.694301e6

VQSLOD
type: SiteQuality
SIO_000300: -6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44223
bin: 6.25e1
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: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.940240589833139e-4
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 1.598e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.69379e6

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 9.75e1
variant carriers: 161

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 152
allele frequency: 1.474010861132661e-2
allele num: 10312
num of homozygotes: 3

Latino
type: Population
allele count: 11
allele frequency: 9.553586937641132e-4
allele num: 11514
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.702106e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

QD
type: SiteQuality
SIO_000300: 1.627e1

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5132
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 1.545e1

VQSLOD
type: SiteQuality
SIO_000300: -3.486e-1

FS
type: SiteQuality
SIO_000300: 4.894e0

DP
type: SiteQuality
SIO_000300: 1.694343e6

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 4315
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006885768409658e-5
allele num: 66514
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.694257e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

FS
type: SiteQuality
SIO_000300: 1.089e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.298e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 559
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

FS
type: SiteQuality
SIO_000300: 3.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.65e1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.693947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 175
allele frequency: 1.697051978277735e-2
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.020386072523904e-5
allele num: 66516
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.944444444444445e-4
allele num: 11520
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

QD
type: SiteQuality
SIO_000300: 1.605e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

DP
type: SiteQuality
SIO_000300: 1.706203e6

FS
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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: 2
allele frequency: 3.006704952043056e-5
allele num: 66518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.69547e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.58e1

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 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: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.432e0

DP
type: SiteQuality
SIO_000300: 1.695578e6

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
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: 10318
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227445685528415e-4
allele num: 16294
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 1.695522e6

QD
type: SiteQuality
SIO_000300: 1.252e1

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.25e1
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: 0
allele frequency: 0.0e0
allele num: 66526
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: 906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 5.43e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.722e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.136e0

DP
type: SiteQuality
SIO_000300: 1.695583e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 14

GenotypeQuality
all individuals: 3710
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 15

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 19

South Asian
type: Population
allele count: 1566
allele frequency: 9.628627643876045e-2
allele num: 16264
num of homozygotes: 97

Latino
type: Population
allele count: 856
allele frequency: 7.424111014744146e-2
allele num: 11530
num of homozygotes: 42

African
type: Population
allele count: 2532
allele frequency: 2.446376811594203e-1
allele num: 10350
num of homozygotes: 319

European (Non-Finnish)
type: Population
allele count: 7222
allele frequency: 1.085525326920186e-1
allele num: 66530
num of homozygotes: 400

Other
type: Population
allele count: 83
allele frequency: 9.140969162995595e-2
allele num: 908
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 511
allele frequency: 7.735392067817136e-2
allele num: 6606
num of homozygotes: 20

East Asian
type: Population
allele count: 294
allele frequency: 3.40830048690007e-2
allele num: 8626
num of homozygotes: 4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.564e1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

DP
type: SiteQuality
SIO_000300: 2.486754e6

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601908065915004e-4
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.229709788489916e-4
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.486754e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.564e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 9.75e1
variant carriers: 4

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 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: 2
allele frequency: 3.006614552014432e-5
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

QD
type: SiteQuality
SIO_000300: 1.637e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.708456e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 9.75e1
variant carriers: 167

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

European (Non-Finnish)
type: Population
allele count: 128
allele frequency: 1.924233313289236e-3
allele num: 66520
num of homozygotes: 2

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

South Asian
type: Population
allele count: 4
allele frequency: 2.459419576979833e-4
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.159868548231201e-3
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.059642749016046e-3
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.560874089490114e-3
allele num: 11532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

DP
type: SiteQuality
SIO_000300: 1.708456e6

QD
type: SiteQuality
SIO_000300: 1.637e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
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: 11534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.481e0

FS
type: SiteQuality
SIO_000300: 1.749e0

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.69745e6

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

QD
type: SiteQuality
SIO_000300: 1.519e1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

DP
type: SiteQuality
SIO_000300: 1.707802e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.97e0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 9.75e1
variant carriers: 6

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.055114261273371e-4
allele num: 16366
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.709709e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

FS
type: SiteQuality
SIO_000300: 2.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

GenotypeQuality
all individuals: 292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.05548765582987e-4
allele num: 16364
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 4.476e0

DP
type: SiteQuality
SIO_000300: 1.709843e6

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
all individuals: 1097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48176
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
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: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.98e-1

DP
type: SiteQuality
SIO_000300: 1.710339e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.151e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
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: 16390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 8.127000000000001e0

DP
type: SiteQuality
SIO_000300: 1.709647e6

QD
type: SiteQuality
SIO_000300: 1.523e1

MQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

FS
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

DP
type: SiteQuality
SIO_000300: 1.709646e6

QD
type: SiteQuality
SIO_000300: 1.39e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5377
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.86e0

DP
type: SiteQuality
SIO_000300: 1.70946e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.691e1

VQSLOD
type: SiteQuality
SIO_000300: -5.906e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.70785e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 1.869e0

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.592e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1088
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variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

DP
type: SiteQuality
SIO_000300: 1.707587e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.027e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 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: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.701138336870538e-3
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.708056e6

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.682e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 3.076e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -2.19e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

FS
type: SiteQuality
SIO_000300: 3.357e0

DP
type: SiteQuality
SIO_000300: 1.706168e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017501508750754e-5
allele num: 66280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

FS
type: SiteQuality
SIO_000300: 6.781e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

DP
type: SiteQuality
SIO_000300: 1.700908e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.713000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.715e0

FS
type: SiteQuality
SIO_000300: 6.953e0

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.700363e6

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023705853894533e-5
allele num: 66144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

DP
type: SiteQuality
SIO_000300: 1.6952e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 1.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

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

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.2375249500998e-5
allele num: 16032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.364e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 1.695061e6

QD
type: SiteQuality
SIO_000300: 1.58e1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46569
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551937608108518e-5
allele num: 65906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.686031e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.1162e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.118e1

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

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3089
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538319539734794e-5
allele num: 65006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.649633e6

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.609e0

DP
type: SiteQuality
SIO_000300: 1.646524e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 1.431e1

QD
type: SiteQuality
SIO_000300: 2.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.209654641160611e-5
allele num: 62312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.413e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.520417e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 8.17e0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.194556822361162e-5
allele num: 10876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.322e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

FS
type: SiteQuality
SIO_000300: 4.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.462095e6

GenotypeQuality
all individuals: 282
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.481669908723627e-5
allele num: 13366
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.305788200260562e-5
allele num: 10746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.390793e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 1126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 703
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variant carriers: 0

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.548594074353652e-4
allele num: 10598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.372795035245708e-4
allele num: 59298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.649e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.29108e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.751e1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeQuality
all individuals: 3080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 790
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5789
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.204791598293403e-5
allele num: 12188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.240314e6

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 1887
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3080
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GenotypeQuality
all individuals: 7811
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.188183807439825e-4
allele num: 9140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.482e0

DP
type: SiteQuality
SIO_000300: 1.239523e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
all individuals: 4857
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variant carriers: 0

GenotypeQuality
all individuals: 6198
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.668613382279326e-4
allele num: 11986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.58e0

VQSLOD
type: SiteQuality
SIO_000300: -3.584e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

QD
type: SiteQuality
SIO_000300: 2.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 3.871e1

DP
type: SiteQuality
SIO_000300: 1.227455e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
all individuals: 1736
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 527
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56600
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 6.684491978609625e-4
allele num: 8976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 3.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 1.219291e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40948
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.470588235294118e-4
allele num: 6800
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.081990863188266e-3
allele num: 8318
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.783e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

DP
type: SiteQuality
SIO_000300: 1.150141e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 1.352e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.419081716580386e-5
allele num: 41338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 4.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 1.170603e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.207795e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15167
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.432887058015792e-4
allele num: 5826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.233115e6

QD
type: SiteQuality
SIO_000300: 9.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 1.355e0

VQSLOD
type: SiteQuality
SIO_000300: -1.35e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
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GenotypeQuality
all individuals: 14303
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.516989680342311e-4
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.607e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

DP
type: SiteQuality
SIO_000300: 1.353029e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.107910480833149e-4
allele num: 9026
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.427e1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.360566e6

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.803e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.799143607642762e-5
allele num: 55582
num of homozygotes: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.210409521888239e-3
allele num: 9914
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.515737e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.643e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

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

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57162
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
type: Population
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Latino
type: Population
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allele frequency: 9.823182711198428e-5
allele num: 10180
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Other
type: Population
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allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.787e0

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

DP
type: SiteQuality
SIO_000300: 1.54159e6

QD
type: SiteQuality
SIO_000300: 1.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.280081925243216e-4
allele num: 15624
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.285051067780872e-5
allele num: 10770
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.643493409591427e-5
allele num: 60846
num of homozygotes: 0

African
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Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0506e1

QD
type: SiteQuality
SIO_000300: 1.054e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

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

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.258178026847387e-5
allele num: 61384
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 4.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

DP
type: SiteQuality
SIO_000300: 1.611644e6

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.374298827129016e-5
allele num: 15688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.496e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.61211e6

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3829
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61466
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 3.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.611209e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1112
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GenotypeQuality
all individuals: 436
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625487646293888e-5
allele num: 61520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.611767e6

QD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.602648e6

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.599e0

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

GenotypeQuality
all individuals: 3600
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 649
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variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666722224074136e-5
allele num: 59998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 1.565469e6

QD
type: SiteQuality
SIO_000300: 4.85e0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

GenotypeQuality
all individuals: 436
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.596928982725528e-5
allele num: 10420
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.623188405797101e-3
allele num: 828
num of homozygotes: 1

East Asian
type: Population
allele count: 25
allele frequency: 3.190403266972946e-3
allele num: 7836
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.648e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.534529e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 3502
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GenotypeQuality
all individuals: 1538
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GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 9664
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GenotypeQuality
all individuals: 969
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.698369565217391e-5
allele num: 58880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.534097e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.774e0

GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
all individuals: 920
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3216
bin: 9.75e1
variant carriers: 110

GenotypeQuality
all individuals: 516
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.415458937198068e-3
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.817814582912543e-3
allele num: 9902
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.738994935722633e-4
allele num: 15402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.226450447995094e-3
allele num: 58706
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 2.377e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.532316e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1646
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.707766923970216e-5
allele num: 58556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.526075e6

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 4.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 1065
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GenotypeQuality
all individuals: 548
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GenotypeQuality
all individuals: 3432
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724970675498516e-5
allele num: 57972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.540222367560497e-5
allele num: 15290
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.508322e6

QD
type: SiteQuality
SIO_000300: 5.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

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

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

GenotypeQuality
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GenotypeQuality
all individuals: 1415
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 834
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.507592190889371e-4
allele num: 9220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

DP
type: SiteQuality
SIO_000300: 1.33963e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 1007
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.437835202340322e-5
allele num: 41020
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.474e0

QD
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.344546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0