9-106862622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862622
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862622
    reference: chr 9
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-48T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-48T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-48T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-48T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-48T>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

9-106862625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862625
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862625
    reference: chr 9
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-45A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22800
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-106862626-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862626
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862626
    reference: chr 9
allele count: 5
allele frequency: 4.187253998827569e-5
allele num: 119410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-44T>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

9-106862637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862637
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862637
    reference: chr 9
allele count: 2
allele frequency: 1.673360107095047e-5
allele num: 119520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-33A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-33A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-33A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-33A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-33A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22801
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14166
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-106862640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862640
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862640
    reference: chr 9
allele count: 3
allele frequency: 2.509410288582183e-5
allele num: 119550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-30C>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-30C>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-30C>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-30C>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-30C>T
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22804
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-106862641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862641
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862641
    reference: chr 9
allele count: 2759
allele frequency: 2.305622409413023e-2
allele num: 119664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-29G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-29G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-29G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-29G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-29G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 6.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 5.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14144
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 167
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-106862653-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862653
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862653
    reference: chr 9
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-17T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-17T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-17T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-17T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-17T>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

9-106862659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862659
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862659
    reference: chr 9
allele count: 9
allele frequency: 7.506130006171707e-5
allele num: 119902
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.592-11T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.592-11T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.157-11T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.592-11T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.592-11T>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22798
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-106862681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862681
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862681
    reference: chr 9
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.603A>G
  hgvsp: ENST00000303219.8:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.168A>G
  hgvsp: ENST00000440179.1:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.603A>G
  hgvsp: ENST00000374787.3:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.603A>G
  hgvsp: ENST00000374793.3:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.603A>G
  hgvsp: ENST00000286398.7:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu201Glu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

9-106862682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862682
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862682
    reference: chr 9
allele count: 4
allele frequency: 3.332389156405685e-5
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.604G>A
  hgvsp: ENSP00000363925.3:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.169G>A
  hgvsp: ENSP00000414999.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.604G>A
  hgvsp: ENSP00000306152.8:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.604G>A
  hgvsp: ENSP00000286398.7:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.604G>A
  hgvsp: ENSP00000363919.3:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu202Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

9-106862692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862692
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862692
    reference: chr 9
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.614C>T
  hgvsp: ENSP00000363925.3:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.179C>T
  hgvsp: ENSP00000414999.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.614C>T
  hgvsp: ENSP00000286398.7:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.614C>T
  hgvsp: ENSP00000306152.8:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.614C>T
  hgvsp: ENSP00000363919.3:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro205Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

9-106862724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862724
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862724
    reference: chr 9
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+10G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+10G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+10G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+10G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+10G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-106862726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862726
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862726
    reference: chr 9
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+12A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+12A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+12A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+12A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+12A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22786
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-106862729-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862729
    reference: chr 9
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+15T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+15T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+15T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+15T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+15T>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-106862729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862729
    reference: chr 9
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+15T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+15T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+15T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+15T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+15T>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

9-106862730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862730
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862730
    reference: chr 9
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+16G>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+16G>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+16G>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+16G>T
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+16G>T
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

9-106862734-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862734
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862734
    reference: chr 9
allele count: 2
allele frequency: 1.675154114178504e-5
allele num: 119392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+20G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+20G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+20G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+20G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+20G>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22787
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-106862738-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862738
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862738
    reference: chr 9
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+24A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+24A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+24A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+24A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+24A>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

9-106862743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862743
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862743
    reference: chr 9
allele count: 2
allele frequency: 1.676867611302088e-5
allele num: 119270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+29A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+29A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+29A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+29A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+29A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22787
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

9-106862750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862750
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862750
    reference: chr 9
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+36T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+36T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+36T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+36T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+36T>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-106862751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862751
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862751
    reference: chr 9
allele count: 2720
allele frequency: 2.28410197843539e-2
allele num: 119084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+37G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+37G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+37G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+37G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+37G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 2.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 4.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 3.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 4.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 9797
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23765
  bin: 9.75e1
  variant carriers: 2487
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 13
num of homozygotes: 161
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

9-106862759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862759
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862759
    reference: chr 9
allele count: 4
allele frequency: 3.36304018833025e-5
allele num: 118940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+45A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+45A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22358
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-106862761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862761
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862761
    reference: chr 9
allele count: 1
allele frequency: 8.414250374434141e-6
allele num: 118846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+47G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+47G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+47G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+47G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+47G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-106862765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106862765
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106862765
    reference: chr 9
allele count: 1
allele frequency: 8.424457886135027e-6
allele num: 118702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.636+51G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.636+51G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.201+51G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.636+51G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.636+51G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-106864197-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864197
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864197
    reference: chr 9
allele count: 1
allele frequency: 8.934314916732185e-6
allele num: 111928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-44T>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-44T>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

9-106864197-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864197
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864198
    reference: chr 9
allele count: 3
allele frequency: 2.680294475019655e-5
allele num: 111928
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-42dupA
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-42dupA
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-42dupA
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-42dupA
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-42dupA
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
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: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-106864198-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864198
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864198
    reference: chr 9
allele count: 1
allele frequency: 8.955598144400065e-6
allele num: 111662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-43A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-43A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-43A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-43A>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-43A>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34224
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

9-106864203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864203
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864203
    reference: chr 9
allele count: 2
allele frequency: 1.769660932965244e-5
allele num: 113016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-38A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-38A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-38A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-38A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-38A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-106864206-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864206
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864206
    reference: chr 9
allele count: 6
allele frequency: 5.279180671159836e-5
allele num: 113654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-35T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-35T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-35T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-35T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-35T>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20404
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 42512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

9-106864211-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864211
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864211
    reference: chr 9
allele count: 1
allele frequency: 8.707464038173523e-6
allele num: 114844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-30G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-30G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-30G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-30G>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-30G>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44871
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

9-106864212-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864212
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864212
    reference: chr 9
allele count: 1
allele frequency: 8.692175303791527e-6
allele num: 115046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-29T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-29T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-29T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-29T>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-29T>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

9-106864214-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864214
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864211
    reference: chr 9
allele count: 1
allele frequency: 8.661758336942399e-6
allele num: 115450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-24_202-22delCTT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-24_637-22delCTT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-24_637-22delCTT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-24_637-22delCTT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-24_637-22delCTT
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: ATTC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

9-106864215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864215
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864215
    reference: chr 9
allele count: 6
allele frequency: 5.181705126433605e-5
allele num: 115792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-26T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-26T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-26T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-26T>C
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-26T>C
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6052
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/9-106864217-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864217
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864217
    reference: chr 9
allele count: 1
allele frequency: 8.628127696289906e-6
allele num: 115900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-24C>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-24C>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-24C>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-24C>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-24C>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-106864217-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864217
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864216
    reference: chr 9
allele count: 1
allele frequency: 8.628127696289906e-6
allele num: 115900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-17delT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-17delT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-17delT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-17delT
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-17delT
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

9-106864227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864227
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864227
    reference: chr 9
allele count: 23
allele frequency: 1.94737020354252e-4
allele num: 118108
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-14G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-14G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-14G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-14G>A
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-14G>A
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

9-106864228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864228
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864228
    reference: chr 9
allele count: 3
allele frequency: 2.535539816426917e-5
allele num: 118318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.637-13A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.637-13A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.637-13A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.637-13A>G
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.202-13A>G
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

9-106864242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864242
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864242
    reference: chr 9
allele count: 5
allele frequency: 4.175435080335371e-5
allele num: 119748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.638A>G
  hgvsp: ENSP00000363925.3:p.Glu213Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.638A>G
  hgvsp: ENSP00000286398.7:p.Glu213Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.638A>G
  hgvsp: ENSP00000363919.3:p.Glu213Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.638A>G
  hgvsp: ENSP00000306152.8:p.Glu213Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.203A>G
  hgvsp: ENSP00000414999.1:p.Glu68Gly
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu213Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

9-106864248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864248
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864248
    reference: chr 9
allele count: 4
allele frequency: 3.335334534053766e-5
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.209C>T
  hgvsp: ENSP00000414999.1:p.Ser70Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.644C>T
  hgvsp: ENSP00000286398.7:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.644C>T
  hgvsp: ENSP00000363925.3:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.644C>T
  hgvsp: ENSP00000306152.8:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.644C>T
  hgvsp: ENSP00000363919.3:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ser215Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-106864249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864249
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864249
    reference: chr 9
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.645G>A
  hgvsp: ENST00000374793.3:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.210G>A
  hgvsp: ENST00000440179.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.645G>A
  hgvsp: ENST00000303219.8:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.645G>A
  hgvsp: ENST00000286398.7:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.645G>A
  hgvsp: ENST00000374787.3:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser215Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

9-106864254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864254
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864254
    reference: chr 9
allele count: 61
allele frequency: 5.077156126712499e-4
allele num: 120146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.650A>G
  hgvsp: ENSP00000363925.3:p.Tyr217Cys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.650A>G
  hgvsp: ENSP00000363919.3:p.Tyr217Cys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.215A>G
  hgvsp: ENSP00000414999.1:p.Tyr72Cys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.650A>G
  hgvsp: ENSP00000286398.7:p.Tyr217Cys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.650A>G
  hgvsp: ENSP00000306152.8:p.Tyr217Cys
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr217Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

9-106864259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864259
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864259
    reference: chr 9
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.655G>A
  hgvsp: ENSP00000363919.3:p.Glu219Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.655G>A
  hgvsp: ENSP00000286398.7:p.Glu219Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.655G>A
  hgvsp: ENSP00000306152.8:p.Glu219Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.220G>A
  hgvsp: ENSP00000414999.1:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.655G>A
  hgvsp: ENSP00000363925.3:p.Glu219Lys
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu219Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

9-106864283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864283
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864283
    reference: chr 9
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.244A>G
  hgvsp: ENSP00000414999.1:p.Ile82Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.679A>G
  hgvsp: ENSP00000363925.3:p.Ile227Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.679A>G
  hgvsp: ENSP00000363919.3:p.Ile227Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.679A>G
  hgvsp: ENSP00000306152.8:p.Ile227Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.679A>G
  hgvsp: ENSP00000286398.7:p.Ile227Val
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile227Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

9-106864297-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864297
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864297
    reference: chr 9
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.258T>G
  hgvsp: ENSP00000414999.1:p.Ser86Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.693T>G
  hgvsp: ENSP00000286398.7:p.Ser231Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.693T>G
  hgvsp: ENSP00000306152.8:p.Ser231Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.693T>G
  hgvsp: ENSP00000363925.3:p.Ser231Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.693T>G
  hgvsp: ENSP00000363919.3:p.Ser231Arg
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser231Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-106864299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864299
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864299
    reference: chr 9
allele count: 3
allele frequency: 2.489502597381043e-5
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.695G>A
  hgvsp: ENSP00000286398.7:p.Arg232His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.695G>A
  hgvsp: ENSP00000306152.8:p.Arg232His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.260G>A
  hgvsp: ENSP00000414999.1:p.Arg87His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.695G>A
  hgvsp: ENSP00000363919.3:p.Arg232His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.695G>A
  hgvsp: ENSP00000363925.3:p.Arg232His
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg232His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-106864307-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864307
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864306
    reference: chr 9
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.705delT
  hgvsp: ENSP00000306152.8:p.Ile235MetfsTer19
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.270delT
  hgvsp: ENSP00000414999.1:p.Ile90MetfsTer19
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.705delT
  hgvsp: ENSP00000363919.3:p.Ile235MetfsTer19
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.705delT
  hgvsp: ENSP00000286398.7:p.Ile235MetfsTer19
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.705delT
  hgvsp: ENSP00000363925.3:p.Ile235MetfsTer19
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile235MetfsTer19
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: AT
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

9-106864311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864311
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864311
    reference: chr 9
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.707C>T
  hgvsp: ENSP00000363925.3:p.Ala236Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.272C>T
  hgvsp: ENSP00000414999.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.707C>T
  hgvsp: ENSP00000363919.3:p.Ala236Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.707C>T
  hgvsp: ENSP00000286398.7:p.Ala236Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.707C>T
  hgvsp: ENSP00000306152.8:p.Ala236Val
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 50253
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genotype quality: GenotypeQuality
  all individuals: 405
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1071
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 141
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala236Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-106864314-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864314
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864314
    reference: chr 9
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.275A>C
  hgvsp: ENSP00000414999.1:p.Tyr92Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.710A>C
  hgvsp: ENSP00000363925.3:p.Tyr237Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.710A>C
  hgvsp: ENSP00000286398.7:p.Tyr237Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.710A>C
  hgvsp: ENSP00000363919.3:p.Tyr237Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.710A>C
  hgvsp: ENSP00000306152.8:p.Tyr237Ser
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
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genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr237Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

9-106864315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864315
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864315
    reference: chr 9
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.711T>C
  hgvsp: ENST00000303219.8:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.711T>C
  hgvsp: ENST00000374787.3:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.711T>C
  hgvsp: ENST00000374793.3:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.276T>C
  hgvsp: ENST00000440179.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.711T>C
  hgvsp: ENST00000286398.7:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr237Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-106864317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864317
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864317
    reference: chr 9
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.713A>G
  hgvsp: ENSP00000363919.3:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.713A>G
  hgvsp: ENSP00000306152.8:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.713A>G
  hgvsp: ENSP00000286398.7:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.278A>G
  hgvsp: ENSP00000414999.1:p.Gln93Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.713A>G
  hgvsp: ENSP00000363925.3:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln238Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-106864325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864325
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864325
    reference: chr 9
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.286C>G
  hgvsp: ENSP00000414999.1:p.Leu96Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.721C>G
  hgvsp: ENSP00000306152.8:p.Leu241Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.721C>G
  hgvsp: ENSP00000286398.7:p.Leu241Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.721C>G
  hgvsp: ENSP00000363919.3:p.Leu241Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.721C>G
  hgvsp: ENSP00000363925.3:p.Leu241Val
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu241Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

9-106864329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864329
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864329
    reference: chr 9
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.725C>T
  hgvsp: ENSP00000286398.7:p.Ala242Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.725C>T
  hgvsp: ENSP00000363925.3:p.Ala242Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.725C>T
  hgvsp: ENSP00000306152.8:p.Ala242Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.725C>T
  hgvsp: ENSP00000363919.3:p.Ala242Val
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.290C>T
  hgvsp: ENSP00000414999.1:p.Ala97Val
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala242Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-106864331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864331
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864331
    reference: chr 9
allele count: 13
allele frequency: 1.079214331966328e-4
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.727G>A
  hgvsp: ENSP00000363925.3:p.Glu243Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.727G>A
  hgvsp: ENSP00000306152.8:p.Glu243Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.727G>A
  hgvsp: ENSP00000286398.7:p.Glu243Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.292G>A
  hgvsp: ENSP00000414999.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.727G>A
  hgvsp: ENSP00000363919.3:p.Glu243Lys
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu243Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

9-106864334-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864334
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864334
    reference: chr 9
allele count: 10
allele frequency: 8.301510874979246e-5
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.730G>T
  hgvsp: ENSP00000363919.3:p.Asp244Tyr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.730G>T
  hgvsp: ENSP00000363925.3:p.Asp244Tyr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.730G>T
  hgvsp: ENSP00000286398.7:p.Asp244Tyr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.730G>T
  hgvsp: ENSP00000306152.8:p.Asp244Tyr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.295G>T
  hgvsp: ENSP00000414999.1:p.Asp99Tyr
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp244Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-106864338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864338
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864338
    reference: chr 9
allele count: 2
allele frequency: 1.660495159656609e-5
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.299C>A
  hgvsp: ENSP00000414999.1:p.Thr100Asn
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.734C>A
  hgvsp: ENSP00000306152.8:p.Thr245Asn
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.734C>A
  hgvsp: ENSP00000363925.3:p.Thr245Asn
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.734C>A
  hgvsp: ENSP00000286398.7:p.Thr245Asn
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.734C>A
  hgvsp: ENSP00000363919.3:p.Thr245Asn
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr245Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-106864347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864347
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864347
    reference: chr 9
allele count: 2
allele frequency: 1.661046791688122e-5
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.743G>A
  hgvsp: ENSP00000306152.8:p.Arg248His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.308G>A
  hgvsp: ENSP00000414999.1:p.Arg103His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.743G>A
  hgvsp: ENSP00000286398.7:p.Arg248His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.743G>A
  hgvsp: ENSP00000363925.3:p.Arg248His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.743G>A
  hgvsp: ENSP00000363919.3:p.Arg248His
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg248His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

9-106864347-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864347
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864347
    reference: chr 9
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.743G>T
  hgvsp: ENSP00000306152.8:p.Arg248Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.308G>T
  hgvsp: ENSP00000414999.1:p.Arg103Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.743G>T
  hgvsp: ENSP00000286398.7:p.Arg248Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.743G>T
  hgvsp: ENSP00000363919.3:p.Arg248Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.743G>T
  hgvsp: ENSP00000363925.3:p.Arg248Leu
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg248Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

9-106864358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864358
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864358
    reference: chr 9
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.754G>A
  hgvsp: ENSP00000363919.3:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.754G>A
  hgvsp: ENSP00000306152.8:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.754G>A
  hgvsp: ENSP00000363925.3:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.319G>A
  hgvsp: ENSP00000414999.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.754G>A
  hgvsp: ENSP00000286398.7:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu252Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

9-106864372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864372
    reference: chr 9
allele count: 6
allele frequency: 4.991597477579408e-5
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.768G>A
  hgvsp: ENSP00000306152.8:p.Met256Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.768G>A
  hgvsp: ENSP00000363919.3:p.Met256Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.333G>A
  hgvsp: ENSP00000414999.1:p.Met111Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.768G>A
  hgvsp: ENSP00000286398.7:p.Met256Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.768G>A
  hgvsp: ENSP00000363925.3:p.Met256Ile
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met256Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

9-106864395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864395
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864395
    reference: chr 9
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.791A>G
  hgvsp: ENSP00000363919.3:p.Gln264Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.356A>G
  hgvsp: ENSP00000414999.1:p.Gln119Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.791A>G
  hgvsp: ENSP00000363925.3:p.Gln264Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.791A>G
  hgvsp: ENSP00000306152.8:p.Gln264Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.791A>G
  hgvsp: ENSP00000286398.7:p.Gln264Arg
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln264Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

9-106864425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864425
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864425
    reference: chr 9
allele count: 2
allele frequency: 1.696698225253656e-5
allele num: 117876
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.821T>G
  hgvsp: ENSP00000286398.7:p.Ile274Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.821T>G
  hgvsp: ENSP00000363925.3:p.Ile274Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.821T>G
  hgvsp: ENSP00000306152.8:p.Ile274Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.821T>G
  hgvsp: ENSP00000363919.3:p.Ile274Arg
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.386T>G
  hgvsp: ENSP00000414999.1:p.Ile129Arg
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22309
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile274Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum

9-106864426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864426
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864426
    reference: chr 9
allele count: 2
allele frequency: 1.694972710939354e-5
allele num: 117996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.822A>G
  hgvsp: ENSP00000363919.3:p.Ile274Met
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.822A>G
  hgvsp: ENSP00000363925.3:p.Ile274Met
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.822A>G
  hgvsp: ENSP00000306152.8:p.Ile274Met
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.822A>G
  hgvsp: ENSP00000286398.7:p.Ile274Met
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.387A>G
  hgvsp: ENSP00000414999.1:p.Ile129Met
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile274Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

9-106864428-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864428
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864428
    reference: chr 9
allele count: 2
allele frequency: 1.69586378822053e-5
allele num: 117934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.824A>T
  hgvsp: ENSP00000363925.3:p.Lys275Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.824A>T
  hgvsp: ENSP00000306152.8:p.Lys275Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.389A>T
  hgvsp: ENSP00000414999.1:p.Lys130Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.824A>T
  hgvsp: ENSP00000363919.3:p.Lys275Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.824A>T
  hgvsp: ENSP00000286398.7:p.Lys275Ile
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys275Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-106864429-AGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864429
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864427
    reference: chr 9
allele count: 1
allele frequency: 8.480613317955154e-6
allele num: 117916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.391_392delGC
  hgvsp: ENSP00000414999.1:p.Ala131ThrfsTer2
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.826_827delGC
  hgvsp: ENSP00000363925.3:p.Ala276ThrfsTer2
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.826_827delGC
  hgvsp: ENSP00000306152.8:p.Ala276ThrfsTer2
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.826_827delGC
  hgvsp: ENSP00000286398.7:p.Ala276ThrfsTer2
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.826_827delGC
  hgvsp: ENSP00000363919.3:p.Ala276ThrfsTer2
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22300
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala276ThrfsTer2
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: AGC
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

9-106864430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864430
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864430
    reference: chr 9
allele count: 2
allele frequency: 1.700998486111348e-5
allele num: 117578
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.826G>A
  hgvsp: ENSP00000286398.7:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.826G>A
  hgvsp: ENSP00000363919.3:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.826G>A
  hgvsp: ENSP00000363925.3:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.826G>A
  hgvsp: ENSP00000306152.8:p.Ala276Thr
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.391G>A
  hgvsp: ENSP00000414999.1:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala276Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

9-106864432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864432
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864432
    reference: chr 9
allele count: 1
allele frequency: 8.510783162266591e-6
allele num: 117498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.828A>G
  hgvsp: ENST00000374787.3:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.393A>G
  hgvsp: ENST00000440179.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.828A>G
  hgvsp: ENST00000286398.7:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.828A>G
  hgvsp: ENST00000303219.8:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.828A>G
  hgvsp: ENST00000374793.3:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22285
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala276Ala
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-106864433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864433
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864433
    reference: chr 9
allele count: 133
allele frequency: 1.13262820840359e-3
allele num: 117426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.829C>T
  hgvsp: ENSP00000286398.7:p.Leu277Phe
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.829C>T
  hgvsp: ENSP00000306152.8:p.Leu277Phe
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.394C>T
  hgvsp: ENSP00000414999.1:p.Leu132Phe
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.829C>T
  hgvsp: ENSP00000363919.3:p.Leu277Phe
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.829C>T
  hgvsp: ENSP00000363925.3:p.Leu277Phe
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28186
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu277Phe
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-106864435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864435
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864435
    reference: chr 9
allele count: 1
allele frequency: 8.539709649871904e-6
allele num: 117100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.831T>C
  hgvsp: ENST00000303219.8:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.396T>C
  hgvsp: ENST00000440179.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.831T>C
  hgvsp: ENST00000374787.3:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.831T>C
  hgvsp: ENST00000286398.7:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.831T>C
  hgvsp: ENST00000374793.3:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu277Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-106864436-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864436
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864436
    reference: chr 9
allele count: 2
allele frequency: 1.709489375523531e-5
allele num: 116994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.397A>C
  hgvsp: ENSP00000414999.1:p.Asn133His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.832A>C
  hgvsp: ENSP00000286398.7:p.Asn278His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.832A>C
  hgvsp: ENSP00000363925.3:p.Asn278His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.832A>C
  hgvsp: ENSP00000306152.8:p.Asn278His
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.832A>C
  hgvsp: ENSP00000363919.3:p.Asn278His
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn278His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-106864445-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864445
    reference: chr 9
allele count: 3
allele frequency: 2.592643805309734e-5
allele num: 115712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.841A>C
  hgvsp: ENSP00000363925.3:p.Ile281Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.406A>C
  hgvsp: ENSP00000414999.1:p.Ile136Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.841A>C
  hgvsp: ENSP00000286398.7:p.Ile281Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.841A>C
  hgvsp: ENSP00000363919.3:p.Ile281Leu
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.841A>C
  hgvsp: ENSP00000306152.8:p.Ile281Leu
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile281Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

9-106864453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864453
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864453
    reference: chr 9
allele count: 1
allele frequency: 8.78827292860407e-6
allele num: 113788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.849A>G
  hgvsp: ENST00000303219.8:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.849A>G
  hgvsp: ENST00000374793.3:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.849A>G
  hgvsp: ENST00000374787.3:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.849A>G
  hgvsp: ENST00000286398.7:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.414A>G
  hgvsp: ENST00000440179.1:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu283Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-106864463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864463
    reference: chr 9
allele count: 1
allele frequency: 9.06158251477038e-6
allele num: 110356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.859A>G
  hgvsp: ENSP00000306152.8:p.Arg287Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.424A>G
  hgvsp: ENSP00000414999.1:p.Arg142Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.859A>G
  hgvsp: ENSP00000363919.3:p.Arg287Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.859A>G
  hgvsp: ENSP00000286398.7:p.Arg287Gly
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.859A>G
  hgvsp: ENSP00000363925.3:p.Arg287Gly
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg287Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

9-106864464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864464
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864464
    reference: chr 9
allele count: 1
allele frequency: 9.074739554974772e-6
allele num: 110196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.860G>T
  hgvsp: ENSP00000286398.7:p.Arg287Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.425G>T
  hgvsp: ENSP00000414999.1:p.Arg142Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.860G>T
  hgvsp: ENSP00000363925.3:p.Arg287Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.860G>T
  hgvsp: ENSP00000363919.3:p.Arg287Ile
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.860G>T
  hgvsp: ENSP00000306152.8:p.Arg287Ile
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg287Ile
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: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

9-106864465-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106864465
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 106864465
    reference: chr 9
allele count: 1
allele frequency: 9.069965715529595e-6
allele num: 110254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000414999
  ensembl transcript: ENST00000440179
  gene symbol: SMC2
  hgvsc: ENST00000440179.1:c.426A>T
  hgvsp: ENSP00000414999.1:p.Arg142Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363919
  ensembl transcript: ENST00000374787
  gene symbol: SMC2
  hgvsc: ENST00000374787.3:c.861A>T
  hgvsp: ENSP00000363919.3:p.Arg287Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000306152
  ensembl transcript: ENST00000303219
  gene symbol: SMC2
  hgvsc: ENST00000303219.8:c.861A>T
  hgvsp: ENSP00000306152.8:p.Arg287Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000363925
  ensembl transcript: ENST00000374793
  gene symbol: SMC2
  hgvsc: ENST00000374793.3:c.861A>T
  hgvsp: ENSP00000363925.3:p.Arg287Ser
  variant of: http://identifiers.org/hgnc/14011
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136824
  ensembl protein: ENSP00000286398
  ensembl transcript: ENST00000286398
  gene symbol: SMC2
  hgvsc: ENST00000286398.7:c.861A>T
  hgvsp: ENSP00000286398.7:p.Arg287Ser
  variant of: http://identifiers.org/hgnc/14011
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg287Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 3301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.341581e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 3.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 2632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12194
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 2.345095e6

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22799
bin: 9.75e1
variant carriers: 5

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.807200929152149e-4
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.346558e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 4075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038590094196293e-5
allele num: 65820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.343e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 2.358893e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

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

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5641
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.042100875364735e-4
allele num: 9596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036652394400413e-5
allele num: 65862
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 2.361754e6

MQRankSum
type: SiteQuality
SIO_000300: -1.538e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.921e0

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
all individuals: 1898
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 23837
bin: 9.75e1
variant carriers: 2539

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 554
allele frequency: 8.407697444302798e-3
allele num: 65892
num of homozygotes: 3

South Asian
type: Population
allele count: 85
allele frequency: 5.158393008860299e-3
allele num: 16478
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 130
allele frequency: 1.972087378640777e-2
allele num: 6592
num of homozygotes: 1

African
type: Population
allele count: 1745
allele frequency: 1.803804010750465e-1
allele num: 9674
num of homozygotes: 158

East Asian
type: Population
allele count: 127
allele frequency: 1.471610660486674e-2
allele num: 8630
num of homozygotes: 1

Latino
type: Population
allele count: 100
allele frequency: 8.689607229753215e-3
allele num: 11508
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 2.022471910112359e-2
allele num: 890
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.022e-1

DP
type: SiteQuality
SIO_000300: 2.407581e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeQuality
all individuals: 4080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.77e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 4.507e0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.373784e6

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
all individuals: 1959
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.60235947258848e-4
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.185567010309278e-4
allele num: 9700
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.375469e6

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22790
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 1.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

DP
type: SiteQuality
SIO_000300: 2.377044e6

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 3739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22792
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.541326067211626e-4
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.889e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 2.377156e6

FS
type: SiteQuality
SIO_000300: 1.354e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.123e1

GenotypeQuality
all individuals: 15174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.033057851239669e-4
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 9.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.374925e6

GenotypeQuality
all individuals: 3272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

DP
type: SiteQuality
SIO_000300: 2.359625e6

FS
type: SiteQuality
SIO_000300: 2.996e0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
all individuals: 5448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.044932079414838e-4
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.355746e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeQuality
all individuals: 22787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

FS
type: SiteQuality
SIO_000300: 1.997e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.355355e6

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.044059302568386e-4
allele num: 9578
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.997e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.355355e6

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
type: SiteQuality
SIO_000300: 2.354187e6

VQSLOD
type: SiteQuality
SIO_000300: -1.843e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
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: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 7.679e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.348153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.069e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.337652e6

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: -7.31e-2

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

GenotypeQuality
all individuals: 12163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3262
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.602e1

VQSLOD
type: SiteQuality
SIO_000300: -1.441e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 1.003e0

DP
type: SiteQuality
SIO_000300: 2.333153e6

GenotypeQuality
all individuals: 2483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
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: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 2.321195e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.344e1

QD
type: SiteQuality
SIO_000300: 1.46e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.75e-1

GenotypeQuality
all individuals: 1353
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 632
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4645
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3175
bin: 9.25e1
variant carriers: 13

East Asian
type: Population
allele count: 127
allele frequency: 1.47297610763164e-2
allele num: 8622
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 130
allele frequency: 1.972087378640777e-2
allele num: 6592
num of homozygotes: 1

African
type: Population
allele count: 1709
allele frequency: 1.798568722374237e-1
allele num: 9502
num of homozygotes: 152

Other
type: Population
allele count: 18
allele frequency: 2.027027027027027e-2
allele num: 888
num of homozygotes: 2

South Asian
type: Population
allele count: 84
allele frequency: 5.120702267739576e-3
allele num: 16404
num of homozygotes: 2

Latino
type: Population
allele count: 101
allele frequency: 8.771929824561403e-3
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 551
allele frequency: 8.404258564412312e-3
allele num: 65562
num of homozygotes: 3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.909999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 2.313316e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.482702577199907e-4
allele num: 8614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526298116548124e-5
allele num: 65518
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.6414e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.538e1

VQSLOD
type: SiteQuality
SIO_000300: -2.494e0

DP
type: SiteQuality
SIO_000300: 2.279974e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

GenotypeQuality
all individuals: 3277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
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: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 2.276355e6

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.835e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.142e0

GenotypeQuality
all individuals: 1530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
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: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529051987767584e-5
allele num: 65400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

QD
type: SiteQuality
SIO_000300: 2.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.847e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.275151e6

GenotypeQuality
all individuals: 1670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5390
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14064
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.893632159373888e-5
allele num: 11244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.358823e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.822685914542006e-5
allele num: 62206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.358823e6

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.909479686386316e-5
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.367947e6

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 1.917e1

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.398601398601399e-4
allele num: 14300
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: 62814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 1.703e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.411478e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.462e0

VQSLOD
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5847
bin: 6.75e1
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
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.633587786259542e-4
allele num: 6550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582378631558959e-5
allele num: 63196
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.793e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.431272e6

FS
type: SiteQuality
SIO_000300: 2.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.850253459377997e-5
allele num: 14598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.46e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -3.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.694e0

QD
type: SiteQuality
SIO_000300: 1.994e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.833401667350006e-5
allele num: 14634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.46327e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555355087566491e-5
allele num: 64294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.931e0

QD
type: SiteQuality
SIO_000300: 1.63e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 3.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 1.471519e6

MQ
type: SiteQuality
SIO_000300: 5.662e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 115
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.102218085931441e-5
allele num: 64470
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.610108303249097e-4
allele num: 8310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.742179072276159e-5
allele num: 14832
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.539e1

FS
type: SiteQuality
SIO_000300: 2.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 1.474452e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.725854183481302e-5
allele num: 14868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
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MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.484353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 6.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.06e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549570768897016e-5
allele num: 64534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.484353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 23

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 22
allele frequency: 3.362988779846525e-4
allele num: 65418
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
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MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

DP
type: SiteQuality
SIO_000300: 1.508408e6

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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 15780
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.580292528016123e-5
allele num: 65498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 886
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.196e0

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.279e0

DP
type: SiteQuality
SIO_000300: 1.510015e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.421e1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.540501271340356e-5
allele num: 66072
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.044852807834129e-5
allele num: 66172
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.568e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.751e0

QD
type: SiteQuality
SIO_000300: 1.078e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

DP
type: SiteQuality
SIO_000300: 1.528771e6

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 9.75e1
variant carriers: 1

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: 900
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: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 2.395e0

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

DP
type: SiteQuality
SIO_000300: 1.529132e6

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 61

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 16
allele frequency: 1.387443635102324e-3
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 45
allele frequency: 2.735894941634241e-3
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.534373e6

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 1.561e0

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 1.532329e6

GenotypeQuality
all individuals: 50328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.504e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 4.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

DP
type: SiteQuality
SIO_000300: 1.535017e6

GenotypeQuality
all individuals: 914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.535326e6

QD
type: SiteQuality
SIO_000300: 1.077e1

FS
type: SiteQuality
SIO_000300: 1.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.535588e6

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 50235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.535298e6

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.884e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

DP
type: SiteQuality
SIO_000300: 1.535205e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.535119e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.552e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: -2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 1.53509e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.597e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.949e0

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.535071e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.91e1

FS
type: SiteQuality
SIO_000300: 8.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.186e0

DP
type: SiteQuality
SIO_000300: 1.5346e6

VQSLOD
type: SiteQuality
SIO_000300: -8.693e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.145e0

VQSLOD
type: SiteQuality
SIO_000300: -9.147e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.385e0

DP
type: SiteQuality
SIO_000300: 1.53443e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

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: 321
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variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.51285930408472e-3
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011231894968231e-5
allele num: 66418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.809e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 1.535672e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.605e0

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.355135965308519e-4
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.534882e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.741e0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 1.534009e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6302
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 1.53369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 1.53369e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.177e1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 62
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
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: 11526
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

QD
type: SiteQuality
SIO_000300: 1.22e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

FS
type: SiteQuality
SIO_000300: 4.948e0

DP
type: SiteQuality
SIO_000300: 1.532329e6

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.082652134423251e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.531314e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 321
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GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.3e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.525549e6

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 2.112e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 817
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GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.079291762894534e-5
allele num: 64950
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 3.3802e1

VQSLOD
type: SiteQuality
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MQ
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DP
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.075219878221293e-5
allele num: 65036
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9452
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.077964849641417e-5
allele num: 64978
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Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.437e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11396
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South Asian
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allele frequency: 0.0e0
allele num: 16378
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.53888769197624e-5
allele num: 64982
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
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DP
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FS
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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.08842150776738e-5
allele num: 64758
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8240
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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South Asian
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allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64710
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.684e1

VQSLOD
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 2
allele frequency: 1.758396342535608e-4
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 3.092050338579512e-5
allele num: 64682
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Other
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South Asian
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allele frequency: 1.223540927444023e-4
allele num: 16346
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African
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allele frequency: 1.358579375267437e-2
allele num: 9348
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East Asian
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allele frequency: 0.0e0
allele num: 8234
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 1.485e0

VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
type: Population
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European (Non-Finnish)
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allele num: 64494
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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Latino
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allele num: 11344
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East Asian
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allele count: 0
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South Asian
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FS
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MQRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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East Asian
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Other
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South Asian
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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QD
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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African
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Other
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East Asian
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65338447802652e-5
allele num: 60482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.545e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 9.66e0

FS
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.38907e6

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60388
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15306
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e0

FS
type: SiteQuality
SIO_000300: 1.935e0

DP
type: SiteQuality
SIO_000300: 1.389285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.299e-1

QD
type: SiteQuality
SIO_000300: 1.221e1